#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRP1B	53353	broad.mit.edu	37	2	141473613	141473613	+	Silent	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:141473613A>G	ENST00000389484.3	-	37	6923	c.5952T>C	c.(5950-5952)ggT>ggC	p.G1984G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1984					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)		AACGGAAAGAACCATTGAGTC	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(5950-5952)ggT>ggC		low density lipoprotein receptor-related protein 1B							118.0	124.0	122.0					2																	141473613		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473613A>G	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.5952T>C	2.37:g.141473613A>G		TSP Lung(27;0.18)					p.G1984G	NM_018557.2	NP_061027.2	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)	37	6923	-		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)	1984					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5952T>C	CCDS2182.1																																																																																				0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	76	0	0	0	1	0	19	76				
KRTAP4-11	653240	broad.mit.edu	37	17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(397-399)aCc>aAc		keratin associated protein 4-11							7.0	13.0	11.0					17																	39274170		677	1579	2256	SO:0001583	missense	653240					keratin filament		g.chr17:39274170G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.398C>A	17.37:g.39274170G>T	ENSP00000375232:p.Thr133Asn						p.T133N	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	133			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.398C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108575	0.56291	.	.	ENSG00000212721	ENST00000391413	T	0.01464	4.86	4.58	1.2	0.21068	.	2.577010	0.03019	U	0.150524	T	0.05135	0.0137	M	0.93062	3.375	0.09310	N	1	B	0.33413	0.411	B	0.32022	0.139	T	0.48692	-0.9013	10	0.48119	T	0.1	.	2.0576	0.03585	0.1147:0.2125:0.4176:0.2553	.	133	Q9BYQ6	KR411_HUMAN	N	133	ENSP00000375232:T133N	ENSP00000375232:T133N	T	-	2	0	KRTAP4-11	36527696	0.000000	0.05858	0.916000	0.36221	0.959000	0.62525	-4.569000	0.00214	0.919000	0.36945	0.514000	0.50259	ACC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	49	1	0	0.217242	1	0.217683	5	49				
CHURC1	91612	broad.mit.edu	37	14	65392796	65392796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:65392796C>T	ENST00000549115.1	+	3	379	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	CHURC1-FNTB_ENST00000549987.1_Nonsense_Mutation_p.Q83*|CHURC1_ENST00000359118.2_Nonsense_Mutation_p.Q83*|CHURC1_ENST00000607599.1_Nonsense_Mutation_p.Q110*|CHURC1_ENST00000552002.2_Nonsense_Mutation_p.Q82*|CHURC1_ENST00000548752.2_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Nonsense_Mutation_p.Q82*			Q8WUH1	CHUR_HUMAN	churchill domain containing 1	109					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GGATGAATTTCAGGTAAATAT	0.313																																						ENST00000607599.1																			0				breast(1)|pancreas(1)	2						c.(328-330)Cag>Tag		churchill domain containing 1							89.0	106.0	100.0					14																	65392796		2201	4288	6489	SO:0001587	stop_gained	91612							g.chr14:65392796C>T	AF060510	CCDS32101.1, CCDS32101.2, CCDS55921.1, CCDS55922.1	14q23.3	2011-09-28	2004-05-05	2004-05-07	ENSG00000258289	ENSG00000258289			20099	protein-coding gene	gene with protein product		608577		C14orf52			Standard	NM_145165		Approved	My015, FLJ33064		Q8WUH1	OTTHUMG00000170218	ENST00000549115.1:c.325C>T	14.37:g.65392796C>T	ENSP00000448050:p.Gln109*					CHURC1_ENST00000549115.1_Nonsense_Mutation_p.Q109*|CHURC1-FNTB_ENST00000447296.2_Nonsense_Mutation_p.Q82*|CHURC1_ENST00000548752.2_Intron|CHURC1_ENST00000552002.2_Nonsense_Mutation_p.Q82*|CHURC1_ENST00000359118.2_Nonsense_Mutation_p.Q83*|CHURC1-FNTB_ENST00000542227.1_Intron	p.Q110*	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)	3	382	+								B3KQ81|G3V1X3|G3V214|Q9H3K7	Nonsense_Mutation	SNP	ENST00000549115.1	37	c.328C>T	CCDS55921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.384776|5.384776	0.95967|0.95967	.|.	.|.	ENSG00000258289;ENSG00000258289;ENSG00000258289;ENSG00000125954;ENSG00000125954|ENSG00000258289	ENST00000552002;ENST00000549115;ENST00000359118;ENST00000549987;ENST00000447296|ENST00000551093	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74412	.|0.3713	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72798	.|-0.4184	.|4	0.87932|.	D|.	0|.	-24.3075|-24.3075	18.1376|18.1376	0.89624|0.89624	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	110;109;83;83;82|88	.|.	ENSP00000352026:Q83X|.	Q|S	+|+	1|2	0|0	FNTB;CHURC1|CHURC1	64462549|64462549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.472000|6.472000	0.73567|0.73567	2.666000|2.666000	0.90696|0.90696	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.313	CHURC1-002	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408062.1	NM_145165		5	105	0	0	0	1	0	5	105				
PHKB	5257	broad.mit.edu	37	16	47697612	47697612	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:47697612G>A	ENST00000323584.5	+	24	2327	c.2303G>A	c.(2302-2304)aGa>aAa	p.R768K	PHKB_ENST00000455779.1_Missense_Mutation_p.R761K|PHKB_ENST00000299167.8_Missense_Mutation_p.R768K|PHKB_ENST00000566044.1_Missense_Mutation_p.R761K	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	768	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CACATTGAGAGAGTCTATAGA	0.318																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2281-2283)aGa>aAa		phosphorylase kinase, beta							221.0	200.0	207.0					16																	47697612		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47697612G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2303G>A	16.37:g.47697612G>A	ENSP00000313504:p.Arg768Lys					PHKB_ENST00000566044.1_Missense_Mutation_p.R761K|PHKB_ENST00000299167.8_Missense_Mutation_p.R768K|PHKB_ENST00000323584.5_Missense_Mutation_p.R768K	p.R761K			Q93100	KPBB_HUMAN			25	2467	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	768					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2282G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880399	0.72294	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88124	-2.34;-2.34	5.73	5.73	0.89815	Glycoside hydrolase 15-related (1);	0.095356	0.64402	D	0.000001	D	0.84772	0.5546	L	0.50333	1.59	0.80722	D	1	B;B	0.33379	0.048;0.41	B;B	0.33960	0.173;0.122	T	0.81136	-0.1070	10	0.18276	T	0.48	-27.5798	19.8961	0.96958	0.0:0.0:1.0:0.0	.	768;761	Q93100;Q93100-4	KPBB_HUMAN;.	K	761;761;768	ENSP00000414345:R761K;ENSP00000313504:R768K	ENSP00000299167:R761K	R	+	2	0	PHKB	46255113	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.220000	0.78008	2.699000	0.92147	0.655000	0.94253	AGA		0.318	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			9	80	0	0	0	1	0	9	80				
CHCHD1	118487	broad.mit.edu	37	10	75542900	75542900	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:75542900G>C	ENST00000372833.5	+	3	325	c.312G>C	c.(310-312)ttG>ttC	p.L104F	ZSWIM8_ENST00000604524.1_5'Flank|ZSWIM8_ENST00000398706.2_5'Flank|ZSWIM8_ENST00000605216.1_5'Flank|ZSWIM8_ENST00000604729.1_5'Flank|CHCHD1_ENST00000372837.3_3'UTR|ZSWIM8_ENST00000603114.1_5'Flank	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	104						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					CAAATAAATTGAATAAGTTGT	0.378																																						ENST00000372833.5																			0				breast(1)	1						c.(310-312)ttG>ttC		coiled-coil-helix-coiled-coil-helix domain containing 1							90.0	94.0	93.0					10																	75542900		2203	4300	6503	SO:0001583	missense	118487					nucleus		g.chr10:75542900G>C	AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	23518	protein-coding gene	gene with protein product		608842	"""chromosome 10 open reading frame 34"""	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.312G>C	10.37:g.75542900G>C	ENSP00000361923:p.Leu104Phe					CHCHD1_ENST00000372837.3_3'UTR	p.L104F	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN			3	325	+	Prostate(51;0.0112)		104						Missense_Mutation	SNP	ENST00000372833.5	37	c.312G>C	CCDS7334.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578989	0.46006	.	.	ENSG00000172586	ENST00000372833	.	.	.	5.36	2.22	0.28083	.	0.953199	0.08563	N	0.927235	T	0.32436	0.0829	L	0.36672	1.1	0.33305	D	0.565352	B	0.28128	0.201	B	0.21360	0.034	T	0.51466	-0.8702	9	0.62326	D	0.03	-0.3092	1.6562	0.02782	0.1564:0.142:0.4093:0.2923	.	104	Q96BP2	CHCH1_HUMAN	F	104	.	ENSP00000361923:L104F	L	+	3	2	CHCHD1	75212906	0.991000	0.36638	0.857000	0.33713	0.952000	0.60782	0.293000	0.19029	1.241000	0.43820	0.655000	0.94253	TTG		0.378	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048676.1	XM_058325		20	40	0	0	0	1	0	20	40				
SLC5A2	6524	broad.mit.edu	37	16	31500306	31500306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:31500306C>A	ENST00000330498.3	+	11	1405	c.1386C>A	c.(1384-1386)taC>taA	p.Y462*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	462					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCTCTAGCTACCTGGCACCGC	0.667																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1384-1386)taC>taA		solute carrier family 5 (sodium/glucose cotransporter), member 2							45.0	41.0	42.0					16																	31500306		2197	4299	6496	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500306C>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1386C>A	16.37:g.31500306C>A	ENSP00000327943:p.Tyr462*						p.Y462*	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			11	1405	+			462					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.1386C>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297077	0.95574	.	.	ENSG00000140675	ENST00000330498	.	.	.	4.89	1.84	0.25277	.	0.066962	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7723	0.34740	0.0:0.7455:0.0:0.2545	.	.	.	.	X	462	.	ENSP00000327943:Y462X	Y	+	3	2	SLC5A2	31407807	1.000000	0.71417	0.986000	0.45419	0.742000	0.42306	1.525000	0.35953	0.262000	0.21774	0.561000	0.74099	TAC		0.667	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			17	33	1	0	2.5808e-16	1	2.87791e-16	17	33				
KSR2	283455	broad.mit.edu	37	12	118020146	118020146	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:118020146C>A	ENST00000339824.5	-	6	1917	c.1190G>T	c.(1189-1191)cGc>cTc	p.R397L	KSR2_ENST00000302438.5_Missense_Mutation_p.R94L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R368L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	397					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R429L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGACCAGCGTGGCACTGA	0.577																																						ENST00000425217.1																			2	Substitution - Missense(2)	p.R429L(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1102-1104)cGc>cTc		kinase suppressor of ras 2							119.0	122.0	121.0					12																	118020146		2109	4232	6341	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118020146C>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1190G>T	12.37:g.118020146C>A	ENSP00000339952:p.Arg397Leu					KSR2_ENST00000339824.5_Missense_Mutation_p.R397L|KSR2_ENST00000302438.5_Missense_Mutation_p.R94L|KSR2_ENST00000545002.1_5'UTR	p.R368L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			6	1157	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		397					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1103G>T		.	.	.	.	.	.	.	.	.	.	C	17.59	3.428601	0.62844	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.57595	0.39;0.39;0.39	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.34521	1.04	0.80722	D	1	D	0.57257	0.979	P	0.52424	0.698	T	0.51826	-0.8656	10	0.34782	T	0.22	.	16.9342	0.86199	0.0:1.0:0.0:0.0	.	397	Q6VAB6	KSR2_HUMAN	L	368;397;94;69	ENSP00000389715:R368L;ENSP00000339952:R397L;ENSP00000305466:R94L	ENSP00000305466:R94L	R	-	2	0	KSR2	116504529	1.000000	0.71417	0.992000	0.48379	0.205000	0.24178	7.045000	0.76585	2.294000	0.77228	0.313000	0.20887	CGC		0.577	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		27	97	1	0	3.90053e-15	1	4.31065e-15	27	97				
CPSF7	79869	broad.mit.edu	37	11	61196668	61196668	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:61196668C>T	ENST00000394888.4	-	2	212	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CPSF7_ENST00000340437.4_Missense_Mutation_p.E57K|CPSF7_ENST00000439958.3_Missense_Mutation_p.E14K|SDHAF2_ENST00000542074.1_5'Flank|SDHAF2_ENST00000537782.1_5'Flank|SDHAF2_ENST00000534878.1_5'Flank|CPSF7_ENST00000448745.1_Missense_Mutation_p.E14K|CPSF7_ENST00000541963.1_Missense_Mutation_p.E14K|RP11-286N22.8_ENST00000543044.1_5'Flank|SDHAF2_ENST00000543265.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	14					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E14Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTGAACTCCTCGTCAGCATAT	0.488																																						ENST00000340437.4																			1	Substitution - Missense(1)	p.E14Q(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(169-171)Gag>Aag		cleavage and polyadenylation specific factor 7, 59kDa							200.0	192.0	195.0					11																	61196668		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196668C>T		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.40G>A	11.37:g.61196668C>T	ENSP00000378352:p.Glu14Lys					CPSF7_ENST00000439958.3_Missense_Mutation_p.E14K|CPSF7_ENST00000541963.1_Missense_Mutation_p.E14K|CPSF7_ENST00000448745.1_Missense_Mutation_p.E14K|CPSF7_ENST00000394888.4_Missense_Mutation_p.E14K	p.E57K	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			2	249	-			14					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.169G>A	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906441	0.52333	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	.	.	.	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000005	T	0.72961	0.3526	L	0.47016	1.485	0.49582	D	0.9998	D;D;D;D	0.76494	0.999;0.976;0.999;0.986	D;P;D;D	0.74023	0.982;0.905;0.982;0.956	T	0.70171	-0.4945	9	0.32370	T	0.25	.	17.6639	0.88199	0.0:1.0:0.0:0.0	.	14;14;57;14	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	K	57;14;14;14;14;14;14;14;14;14;14;14	.	ENSP00000345412:E57K	E	-	1	0	CPSF7	60953244	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	4.818000	0.62657	2.489000	0.83994	0.563000	0.77884	GAG		0.488	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		5	119	0	0	0	1	0	5	119				
ANGPTL1	9068	broad.mit.edu	37	1	178834277	178834277	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:178834277G>A	ENST00000234816.2	-	3	1082	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S212F|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	212					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AAGTGGGGGAGACACATGGGT	0.468																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(634-636)tCt>tTt		angiopoietin-like 1							127.0	113.0	118.0					1																	178834277		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834277G>A	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.635C>T	1.37:g.178834277G>A	ENSP00000234816:p.Ser212Phe					RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S212F	p.S212F	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	1082	-			212					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.635C>T	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120259	0.56613	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.55760	0.5;0.5	5.32	5.32	0.75619	.	0.735576	0.13948	N	0.351709	T	0.55305	0.1912	L	0.47716	1.5	0.45378	D	0.998367	P	0.47350	0.894	P	0.44597	0.454	T	0.60182	-0.7313	10	0.66056	D	0.02	.	18.9552	0.92655	0.0:0.0:1.0:0.0	.	212	O95841	ANGL1_HUMAN	F	212;212;176	ENSP00000234816:S212F;ENSP00000356601:S212F	ENSP00000234816:S212F	S	-	2	0	ANGPTL1	177100900	0.932000	0.31603	0.997000	0.53966	0.994000	0.84299	4.341000	0.59335	2.639000	0.89480	0.650000	0.86243	TCT		0.468	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		16	111	0	0	0	1	0	16	111				
DSCR3	10311	broad.mit.edu	37	21	38600577	38600577	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:38600577G>A	ENST00000309117.6	-	6	842	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DSCR3_ENST00000398998.1_Missense_Mutation_p.S154L|DSCR3_ENST00000399001.1_Missense_Mutation_p.S77L|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_Missense_Mutation_p.S125L|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000288304.5_Silent_p.L159L|DSCR3_ENST00000476950.1_Missense_Mutation_p.S175L	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	202						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						GGCGGCTTCCGAGCTCTCCAC	0.602																																						ENST00000309117.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(604-606)tCg>tTg		Down syndrome critical region gene 3							67.0	63.0	65.0					21																	38600577		2203	4300	6503	SO:0001583	missense	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38600577G>A	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.605C>T	21.37:g.38600577G>A	ENSP00000311399:p.Ser202Leu					DSCR3_ENST00000398998.1_Missense_Mutation_p.S154L|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Silent_p.L159L|DSCR3_ENST00000399001.1_Missense_Mutation_p.S77L|DSCR3_ENST00000539844.1_Missense_Mutation_p.S125L|DSCR3_ENST00000476950.1_Missense_Mutation_p.S175L	p.S202L	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN			6	842	-			202					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	c.605C>T	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260512	0.80246	.	.	ENSG00000157538	ENST00000309117;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998	.	.	.	5.32	5.32	0.75619	.	0.066503	0.64402	D	0.000007	T	0.75095	0.3803	M	0.86953	2.85	0.80722	D	1	P;D;P;P	0.58268	0.905;0.982;0.535;0.471	B;P;B;B	0.48840	0.36;0.592;0.291;0.212	T	0.79690	-0.1698	8	.	.	.	-14.3322	19.3643	0.94456	0.0:0.0:1.0:0.0	.	77;125;175;202	A8MY26;B7Z606;B7Z6B1;O14972	.;.;.;DSCR3_HUMAN	L	202;125;77;175;154	.	.	S	-	2	0	DSCR3	37522447	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.779000	0.85648	2.659000	0.90383	0.655000	0.94253	TCG		0.602	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			8	49	0	0	0	1	0	8	49				
POTEA	340441	broad.mit.edu	37	8	43155769	43155769	+	RNA	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:43155769T>C	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTTTGGAAGGTATAGTTATTT	0.299																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							47.0	51.0	50.0					8																	43155769		2183	4284	6467			340441							g.chr8:43155769T>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43155769T>C										Q6S8J7	POTEA_HUMAN			0	697	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.299	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		15	56	0	0	0	1	0	15	56				
ELAC2	60528	broad.mit.edu	37	17	12909106	12909106	+	Silent	SNP	G	G	C	rs138869157		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:12909106G>C	ENST00000338034.4	-	10	1073	c.834C>G	c.(832-834)gtC>gtG	p.V278V	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Silent_p.V259V|ELAC2_ENST00000426905.3_Silent_p.V238V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	278					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TCCCGTCCTTGACAGCAGCAA	0.498																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(832-834)gtC>gtG		elaC ribonuclease Z 2							140.0	133.0	135.0					17																	12909106		2203	4300	6503	SO:0001819	synonymous_variant	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12909106G>C	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.834C>G	17.37:g.12909106G>C						ELAC2_ENST00000395962.2_Silent_p.V259V|ELAC2_ENST00000426905.3_Silent_p.V238V	p.V278V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			10	1073	-			278					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	c.834C>G	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701748	0.15172	.	.	ENSG00000006744	ENST00000446899	.	.	.	4.85	2.8	0.32819	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58053	-0.7704	4	.	.	.	-30.9736	11.3999	0.49864	0.0:0.4107:0.5893:0.0	.	.	.	.	E	55	.	.	Q	-	1	0	ELAC2	12849831	0.998000	0.40836	0.224000	0.23877	0.724000	0.41520	0.468000	0.22051	0.712000	0.32039	0.563000	0.77884	CAA		0.498	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			12	77	0	0	0	1	0	12	77				
PRKCG	5582	broad.mit.edu	37	19	54395005	54395005	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:54395005G>A	ENST00000263431.3	+	6	889	c.607G>A	c.(607-609)Gac>Aac	p.D203N	PRKCG_ENST00000542049.1_Missense_Mutation_p.D90N|PRKCG_ENST00000540413.1_Missense_Mutation_p.D203N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D203N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	203	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.D203H(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GCTCATCCCAGACCCTCGGAA	0.527																																						ENST00000263431.3																			1	Substitution - Missense(1)	p.D203H(1)	lung(1)	large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(607-609)Gac>Aac		protein kinase C, gamma							147.0	126.0	133.0					19																	54395005		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395005G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.607G>A	19.37:g.54395005G>A	ENSP00000263431:p.Asp203Asn					PRKCG_ENST00000540413.1_Missense_Mutation_p.D203N|PRKCG_ENST00000542049.1_Missense_Mutation_p.D90N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D203N	p.D203N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	6	889	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		203			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.607G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393464	0.96009	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.78059	0.4224	L	0.51853	1.615	0.58432	D	0.999997	D;D;D;D;D	0.67145	0.994;0.983;0.996;0.986;0.972	D;P;D;D;D	0.80764	0.994;0.877;0.966;0.925;0.925	T	0.79715	-0.1687	9	0.87932	D	0	.	16.7114	0.85386	0.0:0.0:1.0:0.0	.	90;203;203;203;203	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	N	203;203;203;90	ENSP00000440541:D203N;ENSP00000443493:D203N;ENSP00000263431:D203N;ENSP00000438090:D90N	ENSP00000263431:D203N	D	+	1	0	PRKCG	59086817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.141000	0.94612	2.628000	0.89032	0.561000	0.74099	GAC		0.527	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	129	0	0	0	1	0	4	129				
ZNF8	7554	broad.mit.edu	37	19	58806451	58806451	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:58806451A>G	ENST00000196548.5	+	4	1408	c.1277A>G	c.(1276-1278)gAg>gGg	p.E426G	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.E426G			P17098	ZNF8_HUMAN	zinc finger protein 8	426					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGCCCTTTGAGTGCCGCCAG	0.602																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(1276-1278)gAg>gGg		zinc finger protein 8							70.0	73.0	72.0					19																	58806451		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806451A>G	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1277A>G	19.37:g.58806451A>G	ENSP00000196548:p.Glu426Gly					AC010642.1_ENST00000591325.1_3'UTR	p.E426G	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1408	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	426					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1277A>G	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556502	0.45487	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.07327	3.2	4.58	3.53	0.40419	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152498	0.31612	N	0.007353	T	0.09862	0.0242	L	0.42529	1.33	0.30855	N	0.734169	B	0.34181	0.44	B	0.40782	0.34	T	0.06023	-1.0850	10	0.33940	T	0.23	-10.4385	8.8652	0.35282	0.6284:0.3716:0.0:0.0	.	426	P17098	ZNF8_HUMAN	G	426;141	ENSP00000196548:E426G	ENSP00000196548:E426G	E	+	2	0	ZNF8	63498263	0.000000	0.05858	0.996000	0.52242	0.946000	0.59487	0.270000	0.18607	0.860000	0.35481	0.449000	0.29647	GAG		0.602	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		23	104	0	0	0	1	0	23	104				
D2HGDH	728294	broad.mit.edu	37	2	242683097	242683097	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:242683097G>A	ENST00000321264.4	+	5	760	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	D2HGDH_ENST00000403782.1_Missense_Mutation_p.R50Q|D2HGDH_ENST00000342518.6_Missense_Mutation_p.R184Q|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R184Q	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	184	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGAGGAACGGGACTTCATC	0.612																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(550-552)cGg>cAg		D-2-hydroxyglutarate dehydrogenase							60.0	56.0	58.0					2																	242683097		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242683097G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.551G>A	2.37:g.242683097G>A	ENSP00000315351:p.Arg184Gln					D2HGDH_ENST00000403782.1_Missense_Mutation_p.R50Q|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R184Q|D2HGDH_ENST00000342518.6_Missense_Mutation_p.R184Q	p.R184Q	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	5	760	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	184			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.551G>A	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	6.668	0.491857	0.12702	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.15	4.27	0.50696	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.059040	0.64402	D	0.000004	D	0.87253	0.6131	N	0.12961	0.28	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.74386	-0.3682	10	0.24483	T	0.36	.	3.8676	0.09022	0.2565:0.0:0.5693:0.1743	.	184	Q8N465	D2HDH_HUMAN	Q	184;184;50;184	ENSP00000442796:R184Q;ENSP00000315351:R184Q;ENSP00000384723:R50Q;ENSP00000339536:R184Q	ENSP00000315351:R184Q	R	+	2	0	D2HGDH	242331770	0.655000	0.27376	0.128000	0.21923	0.072000	0.16883	1.129000	0.31381	1.195000	0.43115	0.462000	0.41574	CGG		0.612	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		12	24	0	0	0	1	0	12	24				
PCDHB5	26167	broad.mit.edu	37	5	140516722	140516722	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140516722C>A	ENST00000231134.5	+	1	1923	c.1706C>A	c.(1705-1707)gCg>gAg	p.A569E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCGGCGCCTTGCACC	0.721																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1705-1707)gCg>gAg									21.0	26.0	24.0					5																	140516722		2195	4284	6479	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516722C>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1706C>A	5.37:g.140516722C>A	ENSP00000231134:p.Ala569Glu						p.A569E	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1923	+			569			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1706C>A	CCDS4247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.470890|1.470890	0.26423|0.26423	.|.	.|.	ENSG00000113209|ENSG00000113209	ENST00000231134|ENST00000537936	T|.	0.61040|.	0.14|.	4.48|4.48	4.48|4.48	0.54585|0.54585	Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.48409|0.48409	0.1498|0.1498	L|L	0.37466|0.37466	1.105|1.105	0.32003|0.32003	N|N	0.603055|0.603055	B|.	0.31459|.	0.324|.	B|.	0.34722|.	0.188|.	T|T	0.60321|0.60321	-0.7286|-0.7286	9|6	0.87932|0.87932	D|D	0|0	.|.	12.394|12.394	0.55374|0.55374	0.215:0.785:0.0:0.0|0.215:0.785:0.0:0.0	.|.	569|.	Q9Y5E4|.	PCDB5_HUMAN|.	E|S	569|353	ENSP00000231134:A569E|.	ENSP00000231134:A569E|ENSP00000446220:R353S	A|R	+|+	2|1	0|0	PCDHB5|PCDHB5	140496906|140496906	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.062000|0.062000	0.15995|0.15995	0.396000|0.396000	0.20867|0.20867	2.214000|2.214000	0.71695|0.71695	0.194000|0.194000	0.17425|0.17425	GCG|CGC		0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		13	55	1	0	1.52009e-12	1	1.67617e-12	13	55				
LILRA2	11027	broad.mit.edu	37	19	55086487	55086487	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:55086487G>A	ENST00000251377.3	+	5	775	c.642G>A	c.(640-642)gaG>gaA	p.E214E	LILRA2_ENST00000391737.1_Silent_p.E202E|LILRA2_ENST00000251376.3_Silent_p.E214E|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.E214E|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	214	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ATCTCCTGGAGCTCCTGGTCC	0.597																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(640-642)gaG>gaA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							123.0	124.0	124.0					19																	55086487		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55086487G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.642G>A	19.37:g.55086487G>A						LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.E214E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.E202E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E214E	p.E214E						GBM - Glioblastoma multiforme(193;0.0963)	5	775	+								O75020	Silent	SNP	ENST00000251377.3	37	c.642G>A	CCDS46179.1																																																																																				0.597	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			10	134	0	0	0	1	0	10	134				
ACADVL	37	broad.mit.edu	37	17	7128306	7128306	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:7128306G>A	ENST00000356839.5	+	20	2037	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.A598T|ACADVL_ENST00000543245.2_Missense_Mutation_p.A643T	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	620					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGGCATGGCCGCCCTGCAGTC	0.647																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(1858-1860)Gcc>Acc		acyl-CoA dehydrogenase, very long chain							64.0	67.0	66.0					17																	7128306		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7128306G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1858G>A	17.37:g.7128306G>A	ENSP00000349297:p.Ala620Thr					ACADVL_ENST00000543245.2_Missense_Mutation_p.A643T|ACADVL_ENST00000350303.5_Missense_Mutation_p.A598T	p.A620T	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			20	2037	+			620					B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.1858G>A	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	8.802	0.933071	0.18131	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	T;T	0.74842	-0.88;-0.88	5.74	2.22	0.28083	.	0.764949	0.12657	N	0.449924	T	0.56877	0.2015	L	0.41824	1.3	0.09310	N	1	P;B;P	0.38617	0.456;0.311;0.64	B;B;B	0.26864	0.035;0.035;0.074	T	0.39941	-0.9589	10	0.28530	T	0.3	.	7.7259	0.28759	0.3725:0.0:0.6275:0.0	.	643;598;620	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	T	643;666;598;620;666	ENSP00000438689:A643T;ENSP00000344152:A598T	ENSP00000325395:A620T	A	+	1	0	ACADVL	7069030	0.000000	0.05858	0.085000	0.20634	0.816000	0.46133	0.420000	0.21263	0.770000	0.33336	-0.137000	0.14449	GCC		0.647	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		11	42	0	0	0	1	0	11	42				
POTEC	388468	broad.mit.edu	37	18	14543009	14543009	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr18:14543009G>A	ENST00000358970.5	-	1	136	c.137C>T	c.(136-138)tCt>tTt	p.S46F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	46										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTGGTCTCCAGAAGTGCCCAT	0.582																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(136-138)tCt>tTt		POTE ankyrin domain family, member C							64.0	61.0	62.0					18																	14543009		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543009G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.137C>T	18.37:g.14543009G>A	ENSP00000351856:p.Ser46Phe					POTEC_ENST00000389891.4_5'UTR	p.S46F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	136	-			46						Missense_Mutation	SNP	ENST00000358970.5	37	c.137C>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	g	8.045	0.764639	0.15914	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.37058	1.22	0.481	0.481	0.16809	.	.	.	.	.	T	0.44953	0.1318	L	0.36672	1.1	0.09310	N	1	D	0.69078	0.997	D	0.76071	0.987	T	0.25606	-1.0127	8	0.87932	D	0	.	.	.	.	.	46	B2RU33	POTEC_HUMAN	F	46	ENSP00000351856:S46F	ENSP00000351856:S46F	S	-	2	0	POTEC	14533009	0.001000	0.12720	0.002000	0.10522	0.061000	0.15899	-0.131000	0.10482	0.505000	0.28104	0.186000	0.17326	TCT		0.582	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		7	358	0	0	0	1	0	7	358				
RUNX1	861	broad.mit.edu	37	21	36206728	36206728	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:36206728G>C	ENST00000344691.4	-	4	2280	c.703C>G	c.(703-705)Cag>Gag	p.Q235E	RUNX1_ENST00000358356.5_Missense_Mutation_p.Q235E|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000325074.5_Missense_Mutation_p.Q250E|RUNX1_ENST00000300305.3_Missense_Mutation_p.Q262E|RUNX1_ENST00000437180.1_Missense_Mutation_p.Q262E	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	235	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q262*(1)|p.F259fs*219(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CTCTGAGGCTGAGGGTTAAAG	0.652			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.Q262*(1)|p.F259fs*219(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(703-705)Cag>Gag		runt-related transcription factor 1							114.0	110.0	112.0					21																	36206728		2203	4300	6503	SO:0001583	missense	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36206728G>C	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.703C>G	21.37:g.36206728G>C	ENSP00000340690:p.Gln235Glu					RUNX1_ENST00000300305.3_Missense_Mutation_p.Q262E|RUNX1_ENST00000358356.5_Missense_Mutation_p.Q235E|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000437180.1_Missense_Mutation_p.Q262E|RUNX1_ENST00000325074.5_Missense_Mutation_p.Q250E	p.Q235E	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			4	2280	-			235			Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.703C>G	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098097	0.56183	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399245;ENST00000358356;ENST00000399237	T;T;T;T;D;D	0.99353	-1.03;-1.03;-1.03;-1.03;-5.77;-5.76	5.08	5.08	0.68730	.	0.118436	0.64402	D	0.000016	D	0.98292	0.9434	M	0.64404	1.975	0.80722	D	1	P;B;P;P;B	0.47762	0.9;0.392;0.571;0.729;0.055	B;B;B;B;B	0.40940	0.344;0.114;0.288;0.21;0.031	D	0.99316	1.0905	10	0.46703	T	0.11	-19.7417	18.4907	0.90846	0.0:0.0:1.0:0.0	.	262;235;130;262;235	Q2TAM6;Q01196-3;Q01196-11;Q01196-8;Q01196	.;.;.;.;RUNX1_HUMAN	E	235;262;262;250;238;235;250	ENSP00000340690:Q235E;ENSP00000300305:Q262E;ENSP00000409227:Q262E;ENSP00000319459:Q250E;ENSP00000351123:Q235E;ENSP00000382182:Q250E	ENSP00000300305:Q262E	Q	-	1	0	RUNX1	35128598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.279000	0.65597	2.367000	0.80283	0.603000	0.83216	CAG		0.652	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			18	69	0	0	0	1	0	18	69				
AGO3	192669	broad.mit.edu	37	1	36499868	36499868	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:36499868C>G	ENST00000373191.4	+	13	2034	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*	AGO3_ENST00000246314.6_Nonsense_Mutation_p.S328*	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	562	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CAAACTCTGTCAAACTTGTGC	0.353																																						ENST00000373191.4																			0											c.(1684-1686)tCa>tGa		argonaute RISC catalytic component 3							75.0	74.0	74.0					1																	36499868		2203	4300	6503	SO:0001587	stop_gained	192669							g.chr1:36499868C>G	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1685C>G	1.37:g.36499868C>G	ENSP00000362287:p.Ser562*					AGO3_ENST00000246314.6_Nonsense_Mutation_p.S328*	p.S562*	NM_024852.3	NP_079128.2					13	2034	+								B1ALI0|Q5TA55|Q9H1U6	Nonsense_Mutation	SNP	ENST00000373191.4	37	c.1685C>G	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	42	9.523611	0.99195	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-37.9065	17.8765	0.88826	0.0:1.0:0.0:0.0	.	.	.	.	X	562;328	.	ENSP00000246314:S328X	S	+	2	0	EIF2C3	36272455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.288000	0.76882	0.655000	0.94253	TCA		0.353	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		5	34	0	0	0	1	0	5	34				
ASAP2	8853	broad.mit.edu	37	2	9515039	9515039	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:9515039A>G	ENST00000281419.3	+	17	2052	c.1712A>G	c.(1711-1713)gAt>gGt	p.D571G	ASAP2_ENST00000315273.4_Missense_Mutation_p.D571G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	571					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GATGGTGTGGATCTTACGGAA	0.483																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1711-1713)gAt>gGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							92.0	92.0	92.0					2																	9515039		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9515039A>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1712A>G	2.37:g.9515039A>G	ENSP00000281419:p.Asp571Gly					ASAP2_ENST00000315273.4_Missense_Mutation_p.D571G	p.D571G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			17	2052	+			571					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1712A>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563733	0.86335	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.61980	0.08;0.06	5.27	5.27	0.74061	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.991	T	0.82703	-0.0326	10	0.62326	D	0.03	.	15.1879	0.73020	1.0:0.0:0.0:0.0	.	571;571	O43150-2;O43150	.;ASAP2_HUMAN	G	571	ENSP00000281419:D571G;ENSP00000316404:D571G	ENSP00000281419:D571G	D	+	2	0	ASAP2	9432490	1.000000	0.71417	0.996000	0.52242	0.855000	0.48748	9.332000	0.96446	1.984000	0.57885	0.533000	0.62120	GAT		0.483	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		23	56	0	0	0	1	0	23	56				
KIF1B	23095	broad.mit.edu	37	1	10425596	10425596	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:10425596C>G	ENST00000377086.1	+	43	4844	c.4642C>G	c.(4642-4644)Cag>Gag	p.Q1548E	KIF1B_ENST00000377081.1_Missense_Mutation_p.Q1548E|KIF1B_ENST00000263934.6_Missense_Mutation_p.Q1502E			O60333	KIF1B_HUMAN	kinesin family member 1B	1548					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TATCTCCTCTCAGATCTCAAC	0.552																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4642-4644)Cag>Gag		kinesin family member 1B							107.0	100.0	102.0					1																	10425596		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425596C>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4642C>G	1.37:g.10425596C>G	ENSP00000366290:p.Gln1548Glu					KIF1B_ENST00000377081.1_Missense_Mutation_p.Q1548E|KIF1B_ENST00000263934.6_Missense_Mutation_p.Q1502E	p.Q1548E			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4844	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1548					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4642C>G		.	.	.	.	.	.	.	.	.	.	C	10.69	1.421322	0.25639	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.70869	-0.45;-0.52;-0.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.32968	0.349;0.001;0.19;0.272;0.272;0.392	B;B;B;B;B;B	0.33339	0.07;0.001;0.044;0.078;0.078;0.162	T	0.56661	-0.7942	10	0.02654	T	1	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	1534;1508;1548;1522;1548;1502	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	E	1548;1502;1548;1548	ENSP00000263934:Q1502E;ENSP00000366290:Q1548E;ENSP00000366284:Q1548E	ENSP00000263934:Q1502E	Q	+	1	0	KIF1B	10348183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.701000	0.92244	0.650000	0.86243	CAG		0.552	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			19	66	0	0	0	1	0	19	66				
ZFC3H1	196441	broad.mit.edu	37	12	72050645	72050645	+	Intron	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:72050645G>A	ENST00000378743.3	-	2	1374				ZFC3H1_ENST00000548100.1_Silent_p.F345F|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Intron	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTACTAACTGAAATATTTAA	0.318																																						ENST00000548100.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1033-1035)ttC>ttT		zinc finger, C3H1-type containing							82.0	81.0	81.0					12																	72050645		1827	4073	5900	SO:0001627	intron_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72050645G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1015+19C>T	12.37:g.72050645G>A						ZFC3H1_ENST00000378743.3_Intron|ZFC3H1_ENST00000552037.1_Intron	p.F345F			O60293	ZC3H1_HUMAN			2	1248	-			0					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.1035C>T	CCDS41813.1																																																																																				0.318	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		14	62	0	0	0	1	0	14	62				
SLC17A7	57030	broad.mit.edu	37	19	49933929	49933929	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:49933929G>C	ENST00000221485.3	-	12	1701	c.1530C>G	c.(1528-1530)ttC>ttG	p.F510L	SLC17A7_ENST00000600601.1_Missense_Mutation_p.F443L|SLC17A7_ENST00000543531.1_Missense_Mutation_p.F498L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	510					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CATGGCCAACGAAGCCACACT	0.627																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1528-1530)ttC>ttG		solute carrier family 17 (vesicular glutamate transporter), member 7							59.0	50.0	53.0					19																	49933929		2203	4299	6502	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933929G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1530C>G	19.37:g.49933929G>C	ENSP00000221485:p.Phe510Leu					SLC17A7_ENST00000600601.1_Missense_Mutation_p.F443L|SLC17A7_ENST00000543531.1_Missense_Mutation_p.F498L	p.F510L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1701	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	510					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1530C>G	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	9.778	1.174444	0.21704	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.62498	0.02;0.02	4.68	-8.49	0.00931	.	0.091742	0.45361	D	0.000368	T	0.33294	0.0858	N	0.04959	-0.14	0.36164	D	0.848323	B;B	0.21147	0.052;0.01	B;B	0.20577	0.02;0.03	T	0.13575	-1.0504	10	0.10377	T	0.69	.	19.9669	0.97274	0.2105:0.0:0.7895:0.0	.	510;352	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	L	510;498	ENSP00000221485:F510L;ENSP00000441767:F498L	ENSP00000221485:F510L	F	-	3	2	SLC17A7	54625741	0.000000	0.05858	0.663000	0.29738	0.946000	0.59487	-2.484000	0.00980	-1.826000	0.01205	-0.324000	0.08512	TTC		0.627	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			12	56	0	0	0	1	0	12	56				
RNF19B	127544	broad.mit.edu	37	1	33402809	33402809	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:33402809G>T	ENST00000373456.7	-	9	1796	c.1797C>A	c.(1795-1797)caC>caA	p.H599Q	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.H598Q	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	599					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCAGCTGATAGTGGCTTGGTT	0.483																																						ENST00000373456.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1795-1797)caC>caA		ring finger protein 19B							135.0	128.0	130.0					1																	33402809		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402809G>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1797C>A	1.37:g.33402809G>T	ENSP00000362555:p.His599Gln					RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.H598Q	p.H599Q	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN			9	1796	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	599					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1797C>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741755	0.30865	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.32753	1.44;1.44	4.91	3.98	0.46160	.	0.050328	0.85682	N	0.000000	T	0.20577	0.0495	N	0.14661	0.345	0.36974	D	0.89397	B;B	0.32010	0.351;0.024	B;B	0.34824	0.19;0.012	T	0.16600	-1.0397	10	0.31617	T	0.26	.	14.0366	0.64649	0.0:0.2885:0.7115:0.0	.	598;599	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	Q	599;598	ENSP00000362555:H599Q;ENSP00000235150:H598Q	ENSP00000235150:H598Q	H	-	3	2	RNF19B	33175396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.598000	0.24074	1.180000	0.42898	0.537000	0.68136	CAC		0.483	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		16	137	1	0	3.45872e-05	1	3.61228e-05	16	137				
HDAC10	83933	broad.mit.edu	37	22	50689234	50689234	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr22:50689234C>T	ENST00000216271.5	-	2	512	c.160G>A	c.(160-162)Gag>Aag	p.E54K	HDAC10_ENST00000349505.4_Missense_Mutation_p.E54K|HDAC10_ENST00000448072.1_Missense_Mutation_p.E54K|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	54	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGAGGCCTCGCGGGCTGAC	0.706																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(160-162)Gag>Aag		histone deacetylase 10							10.0	12.0	11.0					22																	50689234		2181	4279	6460	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50689234C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.160G>A	22.37:g.50689234C>T	ENSP00000216271:p.Glu54Lys					HDAC10_ENST00000448072.1_Missense_Mutation_p.E54K|HDAC10_ENST00000349505.4_Missense_Mutation_p.E54K|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.E54K	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	512	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	54			Histone deacetylase.		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.160G>A	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370795	0.42003	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.70399	-0.48;-0.48;-0.48	4.12	3.1	0.35709	Histone deacetylase domain (2);	0.067668	0.64402	D	0.000019	T	0.53674	0.1811	L	0.39467	1.215	0.31871	N	0.619712	P;P;P	0.36633	0.507;0.562;0.562	B;B;B	0.36186	0.139;0.219;0.219	T	0.54009	-0.8357	10	0.10111	T	0.7	-19.2226	6.6403	0.22904	0.0:0.7177:0.1819:0.1004	.	54;54;54	Q969S8-2;C9J8B8;Q969S8	.;.;HDA10_HUMAN	K	54	ENSP00000216271:E54K;ENSP00000397542:E54K;ENSP00000343540:E54K	ENSP00000216271:E54K	E	-	1	0	HDAC10	49031361	0.890000	0.30428	0.768000	0.31515	0.270000	0.26580	1.658000	0.37376	0.955000	0.37878	0.313000	0.20887	GAG		0.706	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		3	12	0	0	0	1	0	3	12				
OR8J3	81168	broad.mit.edu	37	11	55904309	55904309	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:55904309C>A	ENST00000301529.1	-	1	885	c.886G>T	c.(886-888)Gat>Tat	p.D296Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACATTTACATCATTATTCCTC	0.348																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(886-888)Gat>Tat		olfactory receptor, family 8, subfamily J, member 3							98.0	97.0	97.0					11																	55904309		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904309C>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.886G>T	11.37:g.55904309C>A	ENSP00000301529:p.Asp296Tyr						p.D296Y	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	885	-	Esophageal squamous(21;0.00693)		296					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.886G>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512105	0.27036	.	.	ENSG00000167822	ENST00000301529	T	0.40476	1.03	3.27	3.27	0.37495	.	0.085474	0.50627	D	0.000106	T	0.64494	0.2603	M	0.89968	3.075	0.30150	N	0.80315	D	0.63880	0.993	P	0.61940	0.896	T	0.67699	-0.5603	10	0.87932	D	0	.	9.9238	0.41481	0.0:0.8912:0.0:0.1088	.	296	Q8NGG0	OR8J3_HUMAN	Y	296	ENSP00000301529:D296Y	ENSP00000301529:D296Y	D	-	1	0	OR8J3	55660885	0.337000	0.24766	0.477000	0.27303	0.208000	0.24298	1.483000	0.35497	1.553000	0.49476	0.297000	0.19635	GAT		0.348	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		19	39	1	0	3.73194e-20	1	4.17099e-20	19	39				
SMG6	23293	broad.mit.edu	37	17	2201249	2201249	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:2201249G>C	ENST00000263073.6	-	3	1998	c.1948C>G	c.(1948-1950)Cag>Gag	p.Q650E	SMG6_ENST00000544865.1_Missense_Mutation_p.Q619E	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	650					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCAATCACCTGATAGAAAGCA	0.423																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1855-1857)Cag>Gag		SMG6 nonsense mediated mRNA decay factor							120.0	113.0	115.0					17																	2201249		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2201249G>C	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1948C>G	17.37:g.2201249G>C	ENSP00000263073:p.Gln650Glu					SMG6_ENST00000263073.5_Missense_Mutation_p.Q650E	p.Q619E			Q86US8	EST1A_HUMAN			3	2365	-			650					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1855C>G	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621472	0.87460	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.15603	2.41;2.41	5.53	5.53	0.82687	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.68317	2.08	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.04255	-1.0965	10	0.28530	T	0.3	-6.7812	19.4615	0.94920	0.0:0.0:1.0:0.0	.	650	Q86US8	EST1A_HUMAN	E	650;619	ENSP00000263073:Q650E;ENSP00000443920:Q619E	ENSP00000263073:Q650E	Q	-	1	0	SMG6	2147999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.163000	0.94750	2.581000	0.87130	0.655000	0.94253	CAG		0.423	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			18	84	0	0	0	1	0	18	84				
ZNF529	57711	broad.mit.edu	37	19	37038219	37038219	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:37038219C>T	ENST00000591340.1	-	5	1399	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	ZNF529_ENST00000334116.7_Missense_Mutation_p.R309K	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	414					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	Esophageal squamous(110;0.198)					AGTATGAATCCTCTGATGTCT	0.383																																						ENST00000334116.7																			0				breast(1)	1						c.(925-927)aGg>aAg		zinc finger protein 529							108.0	119.0	115.0					19																	37038219		2142	4283	6425	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038219C>T	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1241G>A	19.37:g.37038219C>T	ENSP00000465578:p.Arg414Lys					ZNF529_ENST00000591340.1_Missense_Mutation_p.R414K	p.R309K	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN			6	1536	-	Esophageal squamous(110;0.198)		381					K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.926G>A	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169887	0.57584	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.19	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	N	0.12471	0.22	0.22199	N	0.999291	B;B	0.30542	0.151;0.284	B;B	0.33846	0.036;0.171	T	0.19160	-1.0314	8	0.32370	T	0.25	.	9.5192	0.39124	0.0:0.8836:0.0:0.1164	.	309;381	Q6P280-2;Q6P280	.;ZN529_HUMAN	K	414	.	ENSP00000334695:R414K	R	-	2	0	ZNF529	41730059	0.000000	0.05858	1.000000	0.80357	0.948000	0.59901	-0.546000	0.06062	1.606000	0.50161	0.591000	0.81541	AGG		0.383	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		20	130	0	0	0	1	0	20	130				
TNR	7143	broad.mit.edu	37	1	175375816	175375816	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:175375816T>G	ENST00000367674.2	-	3	743	c.35A>C	c.(34-36)aAc>aCc	p.N12T	TNR_ENST00000263525.2_Missense_Mutation_p.N12T			Q92752	TENR_HUMAN	tenascin R	12					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AATGAGCATGTTCTTCAGAAC	0.542																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(34-36)aAc>aCc		tenascin R							157.0	141.0	146.0					1																	175375816		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375816T>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.35A>C	1.37:g.175375816T>G	ENSP00000356646:p.Asn12Thr					TNR_ENST00000263525.2_Missense_Mutation_p.N12T	p.N12T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	743	-	Renal(580;0.146)		12					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.35A>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377492	0.42105	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.25579	1.79;1.79	5.56	5.56	0.83823	.	0.297840	0.36972	N	0.002307	T	0.17789	0.0427	L	0.38175	1.15	0.28586	N	0.909863	P;P	0.39282	0.666;0.518	B;B	0.30179	0.112;0.079	T	0.16867	-1.0388	10	0.44086	T	0.13	.	11.395	0.49836	0.0:0.0:0.1512:0.8488	.	12;12	B4DIX8;Q92752	.;TENR_HUMAN	T	12	ENSP00000356646:N12T;ENSP00000263525:N12T	ENSP00000263525:N12T	N	-	2	0	TNR	173642439	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.114000	0.31196	2.109000	0.64355	0.459000	0.35465	AAC		0.542	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		48	100	0	0	0	1	0	48	100				
C15orf27	123591	broad.mit.edu	37	15	76452507	76452507	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:76452507G>A	ENST00000388942.3	+	5	730	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	152					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTCTTCTCAGAGGTAGGTGG	0.512																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(454-456)Gag>Aag		chromosome 15 open reading frame 27							266.0	281.0	276.0					15																	76452507		2185	4271	6456	SO:0001583	missense	123591					integral to membrane		g.chr15:76452507G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.454G>A	15.37:g.76452507G>A	ENSP00000373594:p.Glu152Lys						p.E152K	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			5	730	+			152					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.454G>A	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498122	0.64186	.	.	ENSG00000169758	ENST00000388942	D	0.98822	-5.16	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	D	0.99152	0.9707	M	0.80422	2.495	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99811	1.1041	10	0.66056	D	0.02	-11.1752	19.125	0.93378	0.0:0.0:1.0:0.0	.	152	Q2M3C6	CO027_HUMAN	K	152	ENSP00000373594:E152K	ENSP00000373594:E152K	E	+	1	0	C15orf27	74239562	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	9.031000	0.93731	2.751000	0.94390	0.563000	0.77884	GAG		0.512	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		19	116	0	0	0	1	0	19	116				
GPAM	57678	broad.mit.edu	37	10	113933538	113933538	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:113933538G>C	ENST00000348367.4	-	7	676	c.479C>G	c.(478-480)tCa>tGa	p.S160*	GPAM_ENST00000423155.1_Nonsense_Mutation_p.S160*|GPAM_ENST00000369425.1_Nonsense_Mutation_p.S160*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	160					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACGGCTTTTGATTGCTGCTG	0.413																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(478-480)tCa>tGa		glycerol-3-phosphate acyltransferase, mitochondrial							119.0	103.0	109.0					10																	113933538		2203	4300	6503	SO:0001587	stop_gained	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113933538G>C	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.479C>G	10.37:g.113933538G>C	ENSP00000265276:p.Ser160*					GPAM_ENST00000423155.1_Nonsense_Mutation_p.S160*|GPAM_ENST00000369425.1_Nonsense_Mutation_p.S160*	p.S160*			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	7	676	-			160					Q5VW51|Q86TA3	Nonsense_Mutation	SNP	ENST00000348367.4	37	c.479C>G	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	38	6.764446	0.97821	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	6.02	6.02	0.97574	.	0.579798	0.18518	N	0.138845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.7656	18.7178	0.91682	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000265276:S160X	S	-	2	0	GPAM	113923528	0.665000	0.27466	0.984000	0.44739	0.809000	0.45718	3.511000	0.53400	2.857000	0.98124	0.650000	0.86243	TCA		0.413	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		7	45	0	0	0	1	0	7	45				
ZNF442	79973	broad.mit.edu	37	19	12461186	12461186	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:12461186G>A	ENST00000242804.4	-	6	1795	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ZNF442_ENST00000438182.1_Missense_Mutation_p.H336Y|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTGCATTTGTGAGGTCCATCT	0.423																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1213-1215)Cac>Tac		zinc finger protein 442							187.0	177.0	180.0					19																	12461186		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461186G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1213C>T	19.37:g.12461186G>A	ENSP00000242804:p.His405Tyr					ZNF442_ENST00000438182.1_Missense_Mutation_p.H336Y	p.H405Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1795	-			405					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1213C>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	5.218	0.225694	0.09916	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.14144	2.53;2.53	0.832	-0.305	0.12784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.00133	-2.03	0.09310	N	1	B	0.16802	0.019	B	0.26310	0.068	T	0.43861	-0.9365	9	0.02654	T	1	.	3.9059	0.09182	0.6983:0.0:0.3017:0.0	.	405	Q9H7R0	ZN442_HUMAN	Y	405;336	ENSP00000242804:H405Y;ENSP00000388634:H336Y	ENSP00000242804:H405Y	H	-	1	0	ZNF442	12322186	0.002000	0.14202	0.003000	0.11579	0.758000	0.43043	1.403000	0.34612	-0.148000	0.11234	0.313000	0.20887	CAC		0.423	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		20	137	0	0	0	1	0	20	137				
SDF4	51150	broad.mit.edu	37	1	1153085	1153085	+	Intron	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:1153085C>T	ENST00000360001.6	-	7	1175				SDF4_ENST00000263741.7_Missense_Mutation_p.A338T			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCGAGCGGGGCACAGGTCAGC	0.637																																						ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1012-1014)Gcc>Acc		stromal cell derived factor 4							111.0	110.0	111.0					1																	1153085		2203	4300	6503	SO:0001627	intron_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1153085C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.913-17G>A	1.37:g.1153085C>T						SDF4_ENST00000360001.6_Intron	p.A338T	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1304	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.1012G>A	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.125573	0.56721	.	.	ENSG00000078808	ENST00000263741	T	0.13657	2.57	4.17	-1.35	0.09114	.	.	.	.	.	T	0.08268	0.0206	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.13407	0.009	T	0.35226	-0.9797	8	0.72032	D	0.01	.	2.5748	0.04804	0.2872:0.4044:0.212:0.0963	.	338	Q9BRK5-6	.	T	338	ENSP00000263741:A338T	ENSP00000263741:A338T	A	-	1	0	SDF4	1142948	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.744000	0.04839	-0.195000	0.10382	-1.401000	0.01141	GCC		0.637	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		8	77	0	0	0	1	0	8	77				
SAMD7	344658	broad.mit.edu	37	3	169644521	169644521	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:169644521C>T	ENST00000428432.2	+	6	860	c.471C>T	c.(469-471)ctC>ctT	p.L157L	SAMD7_ENST00000335556.3_Silent_p.L157L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	157										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAGCACCCTCAGAAACCTTC	0.572																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(469-471)ctC>ctT		sterile alpha motif domain containing 7							62.0	64.0	64.0					3																	169644521		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644521C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.471C>T	3.37:g.169644521C>T						SAMD7_ENST00000335556.3_Silent_p.L157L	p.L157L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	860	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		157						Silent	SNP	ENST00000428432.2	37	c.471C>T	CCDS3209.1																																																																																				0.572	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		9	118	0	0	0	1	0	9	118				
HMG20B	10362	broad.mit.edu	37	19	3576258	3576258	+	Splice_Site	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:3576258G>A	ENST00000333651.6	+	6	547		c.e6-1		MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B						blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCGCCAGAAGACTCGAG	0.627																																						ENST00000333651.6																			1	Unknown(1)	p.?(1)	cervix(1)	cervix(1)	1						c.e6-1		high mobility group 20B							56.0	63.0	60.0					19																	3576258		2056	4171	6227	SO:0001630	splice_region_variant	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3576258G>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.473-1G>A	19.37:g.3576258G>A								NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	6	547	+		Hepatocellular(1079;0.137)						A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Splice_Site	SNP	ENST00000333651.6	37		CCDS45919.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.451042	0.26074	.	.	ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7244	0.62750	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMG20B	3527258	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.193000	0.65120	2.006000	0.58801	0.561000	0.74099	.		0.627	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339	Intron	13	62	0	0	0	1	0	13	62				
LRRC73	221424	broad.mit.edu	37	6	43474984	43474984	+	Missense_Mutation	SNP	C	C	G	rs371800481		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:43474984C>G	ENST00000372441.1	-	6	1843	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	315																	AGTCACATCTCGGTCTCAGCC	0.557											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372441.1																			0											c.(943-945)Gag>Cag		leucine rich repeat containing 73							191.0	153.0	165.0					6																	43474984		2202	4300	6502	SO:0001583	missense	221424							g.chr6:43474984C>G		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.943G>C	6.37:g.43474984C>G	ENSP00000361518:p.Glu315Gln		OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916		p.E315Q	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			6	1843	-			315						Missense_Mutation	SNP	ENST00000372441.1	37	c.943G>C	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849688	0.91277	.	.	ENSG00000204052	ENST00000372441	T	0.56941	0.43	5.79	5.79	0.91817	.	0.056379	0.64402	D	0.000001	T	0.65595	0.2706	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.66783	-0.5836	10	0.87932	D	0	-7.6981	20.0263	0.97523	0.0:1.0:0.0:0.0	.	315	Q5JTD7	CF154_HUMAN	Q	315	ENSP00000361518:E315Q	ENSP00000361518:E315Q	E	-	1	0	C6orf154	43582962	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	6.711000	0.74675	2.735000	0.93741	0.655000	0.94253	GAG		0.557	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		5	33	0	0	0	1	0	5	33				
TRIM52	84851	broad.mit.edu	37	5	180687775	180687775	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:180687775G>A	ENST00000327767.4	-	1	344	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000433265.3_RNA|TRIM52-AS1_ENST00000507434.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	14					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TCCTCCTGAAGGGTCTGCATG	0.597																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(40-42)Ctt>Ttt		tripartite motif containing 52							57.0	52.0	54.0					5																	180687775		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687775G>A		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.40C>T	5.37:g.180687775G>A	ENSP00000332152:p.Leu14Phe					TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	p.L14F	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	344	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	14						Missense_Mutation	SNP	ENST00000327767.4	37	c.40C>T	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	14.54	2.566166	0.45694	.	.	ENSG00000183718	ENST00000327767	T	0.19394	2.15	3.56	3.56	0.40772	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.33614	0.0869	L	0.37750	1.13	0.43830	D	0.996403	D	0.89917	1.0	D	0.80764	0.994	T	0.03335	-1.1047	8	.	.	.	.	13.4541	0.61189	0.0:0.0:1.0:0.0	.	14	Q96A61	TRI52_HUMAN	F	14	ENSP00000332152:L14F	.	L	-	1	0	TRIM52	180620381	0.987000	0.35691	0.752000	0.31206	0.041000	0.13682	2.704000	0.47118	1.961000	0.56991	0.511000	0.50034	CTT		0.597	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		7	43	0	0	0	1	0	7	43				
WDR3	10885	broad.mit.edu	37	1	118484405	118484405	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:118484405C>G	ENST00000349139.5	+	9	971	c.924C>G	c.(922-924)atC>atG	p.I308M	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	308						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGTTTTGTATCCTTTCCAAAA	0.303																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(922-924)atC>atG		WD repeat domain 3							88.0	88.0	88.0					1																	118484405		2203	4294	6497	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118484405C>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.924C>G	1.37:g.118484405C>G	ENSP00000308179:p.Ile308Met					WDR3_ENST00000369441.3_3'UTR	p.I308M	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	9	971	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	308						Missense_Mutation	SNP	ENST00000349139.5	37	c.924C>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206443	0.39003	.	.	ENSG00000065183	ENST00000349139	D	0.81821	-1.54	5.48	-2.32	0.06745	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.231120	0.44285	D	0.000470	T	0.58836	0.2150	L	0.54323	1.7	0.80722	D	1	B	0.23540	0.087	B	0.28553	0.091	T	0.53641	-0.8410	10	0.66056	D	0.02	-3.933	6.7739	0.23609	0.1136:0.4138:0.0:0.4726	.	308	Q9UNX4	WDR3_HUMAN	M	308	ENSP00000308179:I308M	ENSP00000308179:I308M	I	+	3	3	WDR3	118285928	0.797000	0.28877	0.971000	0.41717	0.953000	0.61014	-0.207000	0.09384	-0.292000	0.08999	-0.142000	0.14014	ATC		0.303	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		6	30	0	0	0	1	0	6	30				
TRBV7-4	28594	broad.mit.edu	37	7	142176539	142176539	+	RNA	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:142176539G>A	ENST00000390369.2	-	0	136									T cell receptor beta variable 7-4 (gene/pseudogene)																		TACATGACCCGAAATTGAATC	0.527																																						ENST00000390369.2																			0																				76.0	72.0	73.0					7																	142176539		1871	4128	5999			28594							g.chr7:142176539G>A	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176539G>A														0	136	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.527	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		11	54	0	0	0	1	0	11	54				
HNRNPU	3192	broad.mit.edu	37	1	245021528	245021528	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:245021528C>G	ENST00000283179.9	-	7	1442	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.D408H			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N405_K417delNGQDLGVAFKISK(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ACGCCAAGATCTTGTCCATTC	0.393																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			1	Deletion - In frame(1)	p.N405_K417delNGQDLGVAFKISK(1)	NS(1)	NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1222-1224)Gat>Cat		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							66.0	60.0	62.0					1																	245021528		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245021528C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1279G>C	1.37:g.245021528C>G	ENSP00000283179:p.Asp427His					HNRNPU_ENST00000283179.9_Missense_Mutation_p.D427H	p.D408H	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		7	1456	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		427			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1222G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074609	0.76415	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.68025	-0.3;-0.3;-0.3	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.135057	0.64402	D	0.000003	T	0.77651	0.4162	L	0.49699	1.58	0.80722	D	1	D;P;D;D	0.71674	0.998;0.917;0.997;0.984	D;P;D;P	0.70227	0.954;0.693;0.968;0.905	T	0.68273	-0.5452	10	0.15952	T	0.53	-15.6381	20.8794	0.99867	0.0:1.0:0.0:0.0	.	352;408;427;151	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	H	408;427;352;204	ENSP00000393151:D408H;ENSP00000283179:D427H;ENSP00000410728:D204H	ENSP00000283179:D427H	D	-	1	0	HNRNPU	243088151	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.876000	0.63079	2.941000	0.99782	0.655000	0.94253	GAT		0.393	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		11	52	0	0	0	1	0	11	52				
FABP9	646480	broad.mit.edu	37	8	82373744	82373744	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:82373744G>T	ENST00000379071.2	-	1	70	c.15C>A	c.(13-15)ttC>ttA	p.F5L	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	5					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			AGGTTCCCAAGAAGGGCTCAA	0.398																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(13-15)ttC>ttA		fatty acid binding protein 9, testis							123.0	128.0	126.0					8																	82373744		2203	4300	6503	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82373744G>T			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.15C>A	8.37:g.82373744G>T	ENSP00000368362:p.Phe5Leu					RP11-157I4.4_ENST00000524085.2_RNA	p.F5L	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		1	70	-			5						Missense_Mutation	SNP	ENST00000379071.2	37	c.15C>A		.	.	.	.	.	.	.	.	.	.	G	11.58	1.681641	0.29872	.	.	ENSG00000205186	ENST00000379071	T	0.15139	2.45	5.31	1.46	0.22682	Calycin-like (1);Cytosolic fatty-acid binding (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.42245	1.32	0.51233	D	0.999915	P	0.38078	0.617	B	0.34991	0.193	T	0.12167	-1.0558	10	0.31617	T	0.26	.	7.7723	0.29015	0.4215:0.0:0.5785:0.0	.	5	Q0Z7S8	FABP9_HUMAN	L	5	ENSP00000368362:F5L	ENSP00000368362:F5L	F	-	3	2	FABP9	82536299	0.123000	0.22298	0.999000	0.59377	0.900000	0.52787	0.368000	0.20399	0.376000	0.24707	-0.251000	0.11542	TTC		0.398	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		15	115	1	0	0.00400662	1	0.00409787	15	115				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	35	0	0	0	1	0	3	35				
MFN2	9927	broad.mit.edu	37	1	12061511	12061511	+	Silent	SNP	C	C	T	rs368302487		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:12061511C>T	ENST00000235329.5	+	9	1192	c.870C>T	c.(868-870)ggC>ggT	p.G290G	MFN2_ENST00000444836.1_Silent_p.G290G	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	290	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGAGCTGGGCGTGGTGGATC	0.597																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(868-870)ggC>ggT		mitofusin 2		C	,	1,4405	2.1+/-5.4	0,1,2202	62.0	55.0	57.0		870,870	-6.4	1.0	1		57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MFN2	NM_001127660.1,NM_014874.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	290/758,290/758	12061511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12061511C>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.870C>T	1.37:g.12061511C>T						MFN2_ENST00000444836.1_Silent_p.G290G	p.G290G	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	9	1192	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	290					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.870C>T	CCDS30587.1																																																																																				0.597	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		3	25	0	0	0	1	0	3	25				
FGF21	26291	broad.mit.edu	37	19	49261419	49261419	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:49261419C>T	ENST00000593756.1	+	4	1144	c.572C>T	c.(571-573)tCg>tTg	p.S191L	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Missense_Mutation_p.S191L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	191					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTGGGCTCCTCGGACCCTCTG	0.637																																						ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(571-573)tCg>tTg		fibroblast growth factor 21							12.0	16.0	15.0					19																	49261419		2195	4290	6485	SO:0001583	missense	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261419C>T	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.572C>T	19.37:g.49261419C>T	ENSP00000471477:p.Ser191Leu					FGF21_ENST00000222157.3_Missense_Mutation_p.S191L	p.S191L			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1144	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	191					Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	c.572C>T	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296555	0.60086	.	.	ENSG00000105550	ENST00000222157	T	0.81415	-1.49	4.64	4.64	0.57946	.	0.422423	0.21862	N	0.068017	T	0.62732	0.2452	N	0.24115	0.695	0.34063	D	0.657488	P	0.43662	0.814	B	0.27887	0.084	T	0.73981	-0.3811	10	0.35671	T	0.21	-33.7918	13.2072	0.59805	0.0:1.0:0.0:0.0	.	191	Q9NSA1	FGF21_HUMAN	L	191	ENSP00000222157:S191L	ENSP00000222157:S191L	S	+	2	0	FGF21	53953231	0.984000	0.35163	0.975000	0.42487	0.985000	0.73830	3.713000	0.54882	2.570000	0.86706	0.511000	0.50034	TCG		0.637	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			4	25	0	0	0	1	0	4	25				
AGBL2	79841	broad.mit.edu	37	11	47690425	47690425	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:47690425G>C	ENST00000525123.1	-	15	2467	c.2182C>G	c.(2182-2184)Ctt>Gtt	p.L728V	AGBL2_ENST00000298861.4_Missense_Mutation_p.L728V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.L730V|AGBL2_ENST00000528244.1_Missense_Mutation_p.L690V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	728						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGAACAGGAAGACCATCTGAG	0.388																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(2182-2184)Ctt>Gtt		ATP/GTP binding protein-like 2							134.0	133.0	133.0					11																	47690425		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47690425G>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2182C>G	11.37:g.47690425G>C	ENSP00000435582:p.Leu728Val					AGBL2_ENST00000357610.3_Missense_Mutation_p.L730V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.L728V|AGBL2_ENST00000528244.1_Missense_Mutation_p.L690V	p.L728V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			15	2467	-			728					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.2182C>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060656	0.76074	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.74	5.74	0.90152	.	0.147316	0.43747	D	0.000535	T	0.25121	0.0610	M	0.75264	2.295	0.27745	N	0.944369	D;D	0.65815	0.995;0.991	P;P	0.56042	0.79;0.708	T	0.19128	-1.0315	10	0.14656	T	0.56	-13.4901	15.4179	0.74987	0.0:0.0:1.0:0.0	.	690;728	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	V	111;728;730;728;690	ENSP00000435582:L728V;ENSP00000350228:L730V;ENSP00000298861:L728V;ENSP00000436630:L690V	ENSP00000298861:L728V	L	-	1	0	AGBL2	47647001	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.853000	0.62911	2.706000	0.92434	0.650000	0.86243	CTT		0.388	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		6	68	0	0	0	1	0	6	68				
ARHGAP31	57514	broad.mit.edu	37	3	119134049	119134049	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:119134049G>A	ENST00000264245.4	+	12	3805	c.3273G>A	c.(3271-3273)aaG>aaA	p.K1091K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1091					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TACAGCTAAAGAGCACAGAGT	0.562																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3271-3273)aaG>aaA		Rho GTPase activating protein 31							142.0	151.0	148.0					3																	119134049		2052	4203	6255	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134049G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3273G>A	3.37:g.119134049G>A							p.K1091K	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3805	+			1091					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.3273G>A	CCDS43135.1																																																																																				0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			26	204	0	0	0	1	0	26	204				
BTBD16	118663	broad.mit.edu	37	10	124058634	124058634	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:124058634T>G	ENST00000260723.4	+	9	1027	c.776T>G	c.(775-777)gTg>gGg	p.V259G	BTBD16_ENST00000368994.2_Missense_Mutation_p.V260G	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	259										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CTCCACAAAGTGCTGAAGTCC	0.622											OREG0020592	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(778-780)gTg>gGg		BTB (POZ) domain containing 16							43.0	40.0	41.0					10																	124058634		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124058634T>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.776T>G	10.37:g.124058634T>G	ENSP00000260723:p.Val259Gly		OREG0020592	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	BTBD16_ENST00000260723.4_Missense_Mutation_p.V259G	p.V260G			Q32M84	BTBDG_HUMAN			9	1030	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	259					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.779T>G	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.612577	0.66672	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.21543	2.0;2.01	5.3	5.3	0.74995	.	0.167301	0.40469	N	0.001090	T	0.41282	0.1152	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.64776	0.929;0.929	T	0.31971	-0.9924	10	0.72032	D	0.01	-27.7269	11.6381	0.51215	0.0:0.0:0.0:1.0	.	260;259	Q32M84-2;Q32M84	.;BTBDG_HUMAN	G	259;260	ENSP00000260723:V259G;ENSP00000357990:V260G	ENSP00000260723:V259G	V	+	2	0	BTBD16	124048624	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.211000	0.58507	2.010000	0.58986	0.454000	0.30748	GTG		0.622	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		5	22	0	0	0	1	0	5	22				
FOXP2	93986	broad.mit.edu	37	7	114298149	114298149	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:114298149C>G	ENST00000393494.2	+	11	1574	c.1295C>G	c.(1294-1296)tCg>tGg	p.S432W	FOXP2_ENST00000393498.2_Missense_Mutation_p.S411W|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.S457W|FOXP2_ENST00000350908.4_Missense_Mutation_p.S432W|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.S340W|FOXP2_ENST00000403559.4_Missense_Mutation_p.S449W			O15409	FOXP2_HUMAN	forkhead box P2	432					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTCACCATGTCGAAGAATATG	0.483																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1369-1371)tCg>tGg		forkhead box P2							109.0	113.0	112.0					7																	114298149		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114298149C>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1295C>G	7.37:g.114298149C>G	ENSP00000377132:p.Ser432Trp					FOXP2_ENST00000393494.2_Missense_Mutation_p.S432W|FOXP2_ENST00000393489.3_Missense_Mutation_p.S340W|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.S432W|FOXP2_ENST00000403559.4_Missense_Mutation_p.S449W|FOXP2_ENST00000393498.2_Missense_Mutation_p.S411W|FOXP2_ENST00000393491.3_Intron	p.S457W	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			12	1744	+			432					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1370C>G	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146993	0.37923	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76071	0.955;0.955;0.955;0.987	T	0.63256	-0.6678	10	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	431;449;432;457	B7ZLK5;B4DLD9;O15409;O15409-4	.;.;FOXP2_HUMAN;.	W	432;457;449;432;409;340	ENSP00000377132:S432W;ENSP00000386200:S457W;ENSP00000385069:S449W;ENSP00000265436:S432W;ENSP00000377129:S340W	ENSP00000265436:S432W	S	+	2	0	FOXP2	114085385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.861000	0.98227	0.650000	0.86243	TCG		0.483	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		12	65	0	0	0	1	0	12	65				
CCDC15	80071	broad.mit.edu	37	11	124861477	124861477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:124861477C>T	ENST00000344762.5	+	9	2288	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	CCDC15_ENST00000529051.1_Nonsense_Mutation_p.Q677*	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	677						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATCAAAAATCAGGTAGAGTA	0.398																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2029-2031)Cag>Tag		coiled-coil domain containing 15							57.0	53.0	54.0					11																	124861477		1833	4081	5914	SO:0001587	stop_gained	80071					centrosome		g.chr11:124861477C>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2029C>T	11.37:g.124861477C>T	ENSP00000341684:p.Gln677*					CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q677*	p.Q677*			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	9	2288	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	677					Q9H8U7	Nonsense_Mutation	SNP	ENST00000344762.5	37	c.2029C>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592468	0.96590	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	.	.	.	4.32	1.32	0.21799	.	3.239970	0.00976	N	0.003315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	0.0346	2.6475	0.04988	0.1996:0.5193:0.1781:0.103	.	.	.	.	X	677	.	ENSP00000341684:Q677X	Q	+	1	0	CCDC15	124366687	0.967000	0.33354	0.817000	0.32601	0.034000	0.12701	0.559000	0.23485	0.307000	0.22880	0.563000	0.77884	CAG		0.398	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	7	0	0	0	1	0	3	7				
ZNF107	51427	broad.mit.edu	37	7	64168348	64168348	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:64168348G>C	ENST00000395391.1	+	4	3041	c.1666G>C	c.(1666-1668)Gaa>Caa	p.E556Q	ZNF107_ENST00000423627.1_Missense_Mutation_p.E556Q|ZNF107_ENST00000344930.3_Missense_Mutation_p.E556Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAAATGTGAAGAACATGGCAA	0.353																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1666-1668)Gaa>Caa		zinc finger protein 107							41.0	46.0	45.0					7																	64168348		2201	4295	6496	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168348G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1666G>C	7.37:g.64168348G>C	ENSP00000378789:p.Glu556Gln					ZNF107_ENST00000344930.3_Missense_Mutation_p.E556Q|ZNF107_ENST00000423627.1_Missense_Mutation_p.E556Q	p.E556Q			Q9UII5	ZN107_HUMAN			4	3041	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	556						Missense_Mutation	SNP	ENST00000395391.1	37	c.1666G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	3.564	-0.088946	0.07097	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.01005	5.45;5.45;5.45	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.16037	0.36	0.09310	N	1	D	0.71674	0.998	D	0.66497	0.944	T	0.58989	-0.7538	8	.	.	.	.	7.9559	0.30042	0.0:0.0:1.0:0.0	.	556	Q9UII5	ZN107_HUMAN	Q	556	ENSP00000343443:E556Q;ENSP00000400037:E556Q;ENSP00000378789:E556Q	.	E	+	1	0	ZNF107	63805783	0.000000	0.05858	0.026000	0.17262	0.141000	0.21300	-1.028000	0.03589	0.635000	0.30488	0.313000	0.20887	GAA		0.353	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		10	57	0	0	0	1	0	10	57				
DENND2D	79961	broad.mit.edu	37	1	111730772	111730772	+	Missense_Mutation	SNP	C	C	G	rs578084198	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:111730772C>G	ENST00000357640.4	-	11	1549	c.1320G>C	c.(1318-1320)aaG>aaC	p.K440N	DENND2D_ENST00000369752.5_Missense_Mutation_p.K437N	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	440					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GATTCTTGCTCTTCTCGGCTT	0.468																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1318-1320)aaG>aaC		DENN/MADD domain containing 2D							68.0	68.0	68.0					1																	111730772		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111730772C>G		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1320G>C	1.37:g.111730772C>G	ENSP00000350266:p.Lys440Asn					DENND2D_ENST00000369752.5_Missense_Mutation_p.K437N	p.K440N	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1549	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	440					Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1320G>C	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665776	0.29604	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.14640	2.49;2.49	5.76	1.77	0.24775	.	0.169877	0.52532	D	0.000079	T	0.02380	0.0073	L	0.27053	0.805	0.29159	N	0.8779	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.47983	-0.9074	10	0.17832	T	0.49	-14.834	8.9349	0.35693	0.0:0.6839:0.1114:0.2046	.	437;440	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	N	440;437	ENSP00000350266:K440N;ENSP00000358767:K437N	ENSP00000350266:K440N	K	-	3	2	DENND2D	111532295	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	1.504000	0.35726	-0.041000	0.13558	-0.797000	0.03246	AAG		0.468	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		7	40	0	0	0	1	0	7	40				
OPCML	4978	broad.mit.edu	37	11	132306116	132306116	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:132306116C>T	ENST00000331898.7	-	6	1379	c.801G>A	c.(799-801)ctG>ctA	p.L267L	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.L267L|OPCML_ENST00000374778.4_Silent_p.L226L|OPCML_ENST00000524381.1_Silent_p.L260L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	267	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCATTCCATCCAGACCAGTGG	0.443																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(799-801)ctG>ctA		opioid binding protein/cell adhesion molecule-like							143.0	132.0	136.0					11																	132306116		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306116C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.801G>A	11.37:g.132306116C>T						OPCML_ENST00000374778.4_Silent_p.L226L|OPCML_ENST00000524381.1_Silent_p.L260L|OPCML_ENST00000541867.1_Silent_p.L267L|OPCML_ENST00000529038.1_5'UTR	p.L267L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1379	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	267			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.801G>A	CCDS8492.1																																																																																				0.443	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		12	52	0	0	0	1	0	12	52				
MEI1	150365	broad.mit.edu	37	22	42126602	42126602	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr22:42126602G>C	ENST00000401548.3	+	9	1097	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.E93Q|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTCCTGGTAGAAGAGCCACT	0.488																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1057-1059)Gaa>Caa		meiosis inhibitor 1							176.0	158.0	164.0					22																	42126602		1941	4134	6075	SO:0001583	missense	150365						binding	g.chr22:42126602G>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1057G>C	22.37:g.42126602G>C	ENSP00000384115:p.Glu353Gln					MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.E93Q	p.E353Q	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			9	1097	+			353						Missense_Mutation	SNP	ENST00000401548.3	37	c.1057G>C	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747865	0.69533	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.14391	2.51;2.51	5.9	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	M	0.61703	1.905	0.80722	D	1	P;P	0.51537	0.877;0.946	P;P	0.48677	0.55;0.586	T	0.00565	-1.1668	10	0.33940	T	0.23	-4.3919	16.8155	0.85733	0.0:0.1282:0.8718:0.0	.	353;353	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Q	353;93	ENSP00000384115:E353Q;ENSP00000444225:E93Q	ENSP00000384115:E353Q	E	+	1	0	MEI1	40456548	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.422000	0.66453	2.793000	0.96121	0.563000	0.77884	GAA		0.488	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		8	42	0	0	0	1	0	8	42				
YTHDC2	64848	broad.mit.edu	37	5	112860722	112860722	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:112860722C>G	ENST00000161863.4	+	3	536	c.323C>G	c.(322-324)tCa>tGa	p.S108*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.S108*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	108					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAGATGGATCAGAAACAGCT	0.323																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(322-324)tCa>tGa		YTH domain containing 2							81.0	75.0	77.0					5																	112860722		2202	4300	6502	SO:0001587	stop_gained	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112860722C>G	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.323C>G	5.37:g.112860722C>G	ENSP00000161863:p.Ser108*					YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.S108*	p.S108*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	3	536	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	108					B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	c.323C>G	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	36	5.971705	0.97162	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	.	.	.	5.74	5.74	0.90152	.	0.257385	0.35040	N	0.003481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	X	108;108;48;18	.	ENSP00000161863:S108X	S	+	2	0	YTHDC2	112888621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.572000	0.67411	2.703000	0.92315	0.655000	0.94253	TCA		0.323	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		5	33	0	0	0	1	0	5	33				
TSKS	60385	broad.mit.edu	37	19	50247582	50247582	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:50247582C>G	ENST00000246801.3	-	8	1349	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	TSKS_ENST00000358830.3_Missense_Mutation_p.E223Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	423					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCCCGAACTCCTCCAGAATG	0.597																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1267-1269)Gag>Cag		testis-specific serine kinase substrate							78.0	71.0	73.0					19																	50247582		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50247582C>G	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1267G>C	19.37:g.50247582C>G	ENSP00000246801:p.Glu423Gln					TSKS_ENST00000358830.3_Missense_Mutation_p.E223Q	p.E423Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	8	1349	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	423					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1267G>C	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406675	0.62399	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.45276	0.9;0.9	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000041	T	0.51346	0.1669	L	0.29908	0.895	0.32049	N	0.597155	D	0.67145	0.996	D	0.78314	0.991	T	0.58713	-0.7588	10	0.59425	D	0.04	-32.6634	13.6499	0.62304	0.0:1.0:0.0:0.0	.	423	Q9UJT2	TSKS_HUMAN	Q	423;223	ENSP00000246801:E423Q;ENSP00000351691:E223Q	ENSP00000246801:E423Q	E	-	1	0	TSKS	54939394	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	3.425000	0.52771	2.592000	0.87571	0.555000	0.69702	GAG		0.597	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		7	47	0	0	0	1	0	7	47				
SUN1	23353	broad.mit.edu	37	7	897555	897555	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:897555G>C	ENST00000405266.1	+	14	1620	c.1596G>C	c.(1594-1596)gtG>gtC	p.V532V	SUN1_ENST00000401592.1_Silent_p.V495V|SUN1_ENST00000389574.3_Silent_p.V412V|SUN1_ENST00000425407.2_Silent_p.V412V|SUN1_ENST00000413514.2_Silent_p.V293V|SUN1_ENST00000452783.2_Silent_p.V392V|SUN1_ENST00000456758.2_Silent_p.V684V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	522					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCGACACGTGAAGACCGGCT	0.483																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2050-2052)gtG>gtC		Sad1 and UNC84 domain containing 1							131.0	144.0	140.0					7																	897555		2023	4174	6197	SO:0001819	synonymous_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897555G>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1596G>C	7.37:g.897555G>C						SUN1_ENST00000413514.2_Silent_p.V293V|SUN1_ENST00000405266.1_Silent_p.V532V|SUN1_ENST00000425407.2_Silent_p.V412V|SUN1_ENST00000401592.1_Silent_p.V495V|SUN1_ENST00000452783.2_Silent_p.V392V|SUN1_ENST00000389574.3_Silent_p.V412V	p.V684V			O94901	SUN1_HUMAN			19	2052	+			522			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37	c.2052G>C		.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020192	0.07634	.	.	ENSG00000164828	ENST00000433212	.	.	.	5.15	4.23	0.50019	.	.	.	.	.	T	0.69387	0.3105	.	.	.	0.39592	D	0.969594	.	.	.	.	.	.	T	0.70285	-0.4914	4	.	.	.	0.8406	13.9786	0.64287	0.0:0.1519:0.8481:0.0	.	.	.	.	Q	344	.	.	E	+	1	0	SUN1	864081	0.300000	0.24435	0.004000	0.12327	0.008000	0.06430	1.447000	0.35101	1.239000	0.43787	0.655000	0.94253	GAA		0.483	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		24	243	0	0	0	1	0	24	243				
COL8A1	1295	broad.mit.edu	37	3	99514434	99514434	+	Silent	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:99514434C>A	ENST00000261037.3	+	5	2069	c.1689C>A	c.(1687-1689)ggC>ggA	p.G563G	COL8A1_ENST00000273342.4_Silent_p.G563G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	563	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						gacccccaggccctccaggac	0.637																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1687-1689)ggC>ggA		collagen, type VIII, alpha 1							26.0	29.0	28.0					3																	99514434		2203	4300	6503	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514434C>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1689C>A	3.37:g.99514434C>A						COL8A1_ENST00000273342.4_Silent_p.G563G	p.G563G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2069	+			563			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.1689C>A	CCDS2934.1																																																																																				0.637	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		14	34	1	0	0.000151284	1	0.000156022	14	34				
SOS2	6655	broad.mit.edu	37	14	50605458	50605458	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:50605458C>G	ENST00000216373.5	-	18	3104	c.2830G>C	c.(2830-2832)Gat>Cat	p.D944H	SOS2_ENST00000543680.1_Missense_Mutation_p.D911H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	944	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTAAAAAATCATTATTCCCT	0.249																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(2830-2832)Gat>Cat		son of sevenless homolog 2 (Drosophila)							39.0	39.0	39.0					14																	50605458		2199	4296	6495	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50605458C>G	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2830G>C	14.37:g.50605458C>G	ENSP00000216373:p.Asp944His					SOS2_ENST00000543680.1_Missense_Mutation_p.D911H	p.D944H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			18	3104	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		944			Ras-GEF.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.2830G>C	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742167	0.89573	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.35605	1.3;1.3	5.6	5.6	0.85130	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.87269	2.87	0.80722	D	1	P;P	0.42757	0.789;0.624	P;P	0.47251	0.542;0.542	T	0.63278	-0.6673	10	0.56958	D	0.05	.	19.6047	0.95576	0.0:1.0:0.0:0.0	.	911;944	B7ZKT6;Q07890	.;SOS2_HUMAN	H	944;911	ENSP00000216373:D944H;ENSP00000445328:D911H	ENSP00000216373:D944H	D	-	1	0	SOS2	49675208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.640000	0.89533	0.655000	0.94253	GAT		0.249	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			4	23	0	0	0	1	0	4	23				
PCM1	5108	broad.mit.edu	37	8	17810491	17810491	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:17810491C>T	ENST00000519253.1	+	9	1335	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	PCM1_ENST00000325083.8_Missense_Mutation_p.P362S|PCM1_ENST00000518537.1_Missense_Mutation_p.P401S|PCM1_ENST00000524226.1_Missense_Mutation_p.P362S			Q15154	PCM1_HUMAN	pericentriolar material 1	362					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TCCAGCTGTTCCAGACAATAG	0.343			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(1084-1086)Cca>Tca		pericentriolar material 1							31.0	28.0	29.0					8																	17810491		1810	4076	5886	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17810491C>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1084C>T	8.37:g.17810491C>T	ENSP00000431099:p.Pro362Ser					PCM1_ENST00000518537.1_Missense_Mutation_p.P401S|PCM1_ENST00000519253.1_Missense_Mutation_p.P362S|PCM1_ENST00000524226.1_Missense_Mutation_p.P362S	p.P362S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	9	1523	+			362					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1084C>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.946305	0.73672	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.30714	3.16;2.3;1.52;1.67;3.16;2.92	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.66939	2.045	0.80722	D	1	D;P;D;D	0.89917	1.0;0.843;1.0;1.0	D;P;D;D	0.91635	0.999;0.609;0.999;0.999	T	0.51028	-0.8757	10	0.41790	T	0.15	-13.348	18.2963	0.90147	0.0:1.0:0.0:0.0	.	362;401;362;362	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	S	362;401;401;401;362;362;362	ENSP00000327077:P362S;ENSP00000428131:P401S;ENSP00000428123:P401S;ENSP00000429941:P362S;ENSP00000431099:P362S;ENSP00000430521:P362S	ENSP00000327077:P362S	P	+	1	0	PCM1	17854771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.375000	0.79646	2.658000	0.90341	0.585000	0.79938	CCA		0.343	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	9	0	0	0	1	0	3	9				
ADAMTS15	170689	broad.mit.edu	37	11	130332600	130332600	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:130332600T>A	ENST00000299164.2	+	4	1467	c.1467T>A	c.(1465-1467)gaT>gaA	p.D489E		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	489	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTGGGCCGATGGCACCAGCT	0.627																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1465-1467)gaT>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 15							92.0	91.0	91.0					11																	130332600		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332600T>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1467T>A	11.37:g.130332600T>A	ENSP00000299164:p.Asp489Glu						p.D489E	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1467	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	489			Disintegrin.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1467T>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178698	0.78564	.	.	ENSG00000166106	ENST00000299164	T	0.61158	0.13	5.48	-0.78	0.10969	.	.	.	.	.	T	0.63129	0.2485	L	0.46741	1.465	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.57602	-0.7783	9	0.25106	T	0.35	.	11.3014	0.49309	0.0:0.4155:0.0:0.5845	.	489	Q8TE58	ATS15_HUMAN	E	489	ENSP00000299164:D489E	ENSP00000299164:D489E	D	+	3	2	ADAMTS15	129837810	0.002000	0.14202	0.995000	0.50966	0.985000	0.73830	-1.280000	0.02804	-0.156000	0.11079	-0.290000	0.09829	GAT		0.627	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		7	90	0	0	0	1	0	7	90				
KPRP	448834	broad.mit.edu	37	1	152733114	152733114	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:152733114C>T	ENST00000606109.1	+	1	1078	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	KPRP_ENST00000368773.1_Silent_p.I350I			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	350	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.I350M(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCATCAGACGCCGCT	0.652																																						ENST00000368773.1																			2	Substitution - Missense(2)	p.I350M(2)	lung(2)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1048-1050)atC>atT		keratinocyte proline-rich protein							44.0	48.0	46.0					1																	152733114		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733114C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1050C>T	1.37:g.152733114C>T						KPRP_ENST00000606109.1_Silent_p.I350I	p.I350I	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1108	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		350			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.1050C>T	CCDS30862.1																																																																																				0.652	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		7	41	0	0	0	1	0	7	41				
MUC5B	727897	broad.mit.edu	37	11	1269842	1269842	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:1269842G>A	ENST00000529681.1	+	31	11790	c.11732G>A	c.(11731-11733)gGg>gAg	p.G3911E	MUC5B_ENST00000447027.1_Missense_Mutation_p.G3914E|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3911	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCGTCCCGGGGACCACCCAC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11740-11742)gGg>gAg		mucin 5B, oligomeric mucus/gel-forming							82.0	94.0	90.0					11																	1269842		2029	4153	6182	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269842G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11732G>A	11.37:g.1269842G>A	ENSP00000436812:p.Gly3911Glu					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.G3911E	p.G3914E			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11799	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3911			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11741G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.552	-0.303764	0.05495	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16897	2.31;2.5	3.32	-6.64	0.01801	.	.	.	.	.	T	0.14227	0.0344	M	0.72894	2.215	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.12837	0.008;0.008	T	0.22730	-1.0208	9	0.87932	D	0	.	1.9908	0.03446	0.1353:0.3529:0.1791:0.3327	.	4439;3914	A7Y9J9;E9PBJ0	.;.	E	3911;3914;3855;3816	ENSP00000436812:G3911E;ENSP00000415793:G3914E	ENSP00000343037:G3855E	G	+	2	0	MUC5B	1226418	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.799000	0.00363	-2.942000	0.00296	0.306000	0.20318	GGG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	73	0	0	0	1	0	5	73				
DPP10	57628	broad.mit.edu	37	2	116066899	116066899	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:116066899A>G	ENST00000410059.1	+	2	625	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.I42V|DPP10_ENST00000393147.2_Missense_Mutation_p.I53V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	49	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGCTCACTCATCACTATGTC	0.413																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(145-147)Atc>Gtc		dipeptidyl-peptidase 10 (non-functional)							242.0	215.0	224.0					2																	116066899		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066899A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.145A>G	2.37:g.116066899A>G	ENSP00000386565:p.Ile49Val					DPP10_ENST00000310323.8_Missense_Mutation_p.I42V|DPP10_ENST00000393147.2_Missense_Mutation_p.I53V|DPP10_ENST00000409163.1_5'UTR	p.I49V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	625	+			49			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.145A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895724	0.72639	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	L	0.53617	1.68	0.58432	D	0.999998	P;P;P;P	0.49447	0.924;0.913;0.876;0.876	P;P;P;B	0.61592	0.616;0.891;0.545;0.412	T	0.54043	-0.8352	10	0.62326	D	0.03	6.9727	15.1488	0.72681	1.0:0.0:0.0:0.0	.	42;53;45;49	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	49;45;53;42	ENSP00000386565:I49V;ENSP00000376854:I45V;ENSP00000376855:I53V;ENSP00000309066:I42V	ENSP00000309066:I42V	I	+	1	0	DPP10	115783369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.737000	0.91562	2.181000	0.69327	0.533000	0.62120	ATC		0.413	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		8	53	0	0	0	1	0	8	53				
ZNF404	342908	broad.mit.edu	37	19	44377562	44377562	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:44377562C>G	ENST00000587539.1	-	3	803	c.804G>C	c.(802-804)gtG>gtC	p.V268V	ZNF404_ENST00000324394.6_Silent_p.V266V	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TGTAGGGTTTCACACCATGAT	0.353																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(802-804)gtG>gtC		zinc finger protein 404							45.0	46.0	46.0					19																	44377562		2046	4225	6271	SO:0001819	synonymous_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377562C>G	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.804G>C	19.37:g.44377562C>G						ZNF404_ENST00000324394.6_Silent_p.V266V	p.V268V	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	803	-		Prostate(69;0.0352)	268					A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	c.804G>C	CCDS59394.1																																																																																				0.353	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		6	37	0	0	0	1	0	6	37				
GART	2618	broad.mit.edu	37	21	34903824	34903824	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:34903824C>T	ENST00000381831.3	-	6	831	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	GART_ENST00000381815.4_Missense_Mutation_p.E190K|GART_ENST00000361093.5_Missense_Mutation_p.E190K|GART_ENST00000497313.1_5'UTR|GART_ENST00000381839.3_Missense_Mutation_p.E190K	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	190	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.E190*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353																																						ENST00000381831.3																			1	Substitution - Nonsense(1)	p.E190*(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(568-570)Gaa>Aaa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						143.0	144.0	144.0					21																	34903824		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34903824C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.568G>A	21.37:g.34903824C>T	ENSP00000371253:p.Glu190Lys					GART_ENST00000361093.5_Missense_Mutation_p.E190K|GART_ENST00000497313.1_5'UTR|GART_ENST00000381839.3_Missense_Mutation_p.E190K|GART_ENST00000381815.4_Missense_Mutation_p.E190K	p.E190K	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			6	831	-			190			ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.568G>A	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669495	0.96754	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.69175	0.37;0.37;0.37;0.36;-0.32;-0.38	6.07	6.07	0.98685	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94326	0.7558	10	0.87932	D	0	-33.5951	20.6439	0.99570	0.0:1.0:0.0:0.0	.	190	P22102	PUR2_HUMAN	K	190	ENSP00000371236:E190K;ENSP00000371253:E190K;ENSP00000371261:E190K;ENSP00000354388:E190K;ENSP00000413040:E190K;ENSP00000398631:E190K	ENSP00000354388:E190K	E	-	1	0	GART	33825694	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.786000	0.75094	2.890000	0.99128	0.650000	0.86243	GAA		0.353	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		20	136	0	0	0	1	0	20	136				
DENND2A	27147	broad.mit.edu	37	7	140301918	140301918	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:140301918C>T	ENST00000275884.6	-	2	697	c.280G>A	c.(280-282)Gag>Aag	p.E94K	DENND2A_ENST00000537639.1_Missense_Mutation_p.E94K|DENND2A_ENST00000492720.1_Missense_Mutation_p.E94K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E94K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	94					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCTTAGCCTCTGTGACCTGA	0.572																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(280-282)Gag>Aag		DENN/MADD domain containing 2A							154.0	155.0	155.0					7																	140301918		2072	4212	6284	SO:0001583	missense	27147							g.chr7:140301918C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.280G>A	7.37:g.140301918C>T	ENSP00000275884:p.Glu94Lys					DENND2A_ENST00000496613.1_Missense_Mutation_p.E94K|DENND2A_ENST00000492720.1_Missense_Mutation_p.E94K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E94K	p.E94K			Q9ULE3	DEN2A_HUMAN			2	697	-	Melanoma(164;0.00956)		94					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.280G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513667	0.27123	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	4.8	1.99	0.26369	.	1.522360	0.03688	N	0.246658	T	0.70281	0.3206	N	0.22421	0.69	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.12156	0.007;0.005	T	0.52525	-0.8564	10	0.25106	T	0.35	-4.7728	8.9495	0.35781	0.0:0.7573:0.0:0.2427	.	94;94	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	94	ENSP00000275884:E94K;ENSP00000442245:E94K;ENSP00000419654:E94K;ENSP00000419464:E94K;ENSP00000418844:E94K	ENSP00000275884:E94K	E	-	1	0	DENND2A	139948387	0.020000	0.18652	0.000000	0.03702	0.252000	0.25951	2.034000	0.41145	0.233000	0.21120	-0.136000	0.14681	GAG		0.572	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		20	98	0	0	0	1	0	20	98				
ACADVL	37	broad.mit.edu	37	17	7124970	7124970	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:7124970G>C	ENST00000356839.5	+	7	770	c.591G>C	c.(589-591)caG>caC	p.Q197H	DLG4_ENST00000399510.2_5'Flank|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.Q175H|ACADVL_ENST00000543245.2_Missense_Mutation_p.Q220H|ACADVL_ENST00000581562.1_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	197	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CAAAGGCCCAGAAAGAAAAAT	0.577																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(589-591)caG>caC		acyl-CoA dehydrogenase, very long chain							62.0	60.0	60.0					17																	7124970		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7124970G>C	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.591G>C	17.37:g.7124970G>C	ENSP00000349297:p.Gln197His					ACADVL_ENST00000543245.2_Missense_Mutation_p.Q220H|ACADVL_ENST00000350303.5_Missense_Mutation_p.Q175H|ACADVL_ENST00000581562.1_Intron	p.Q197H	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			7	770	+			197			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.591G>C	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186467	0.94885	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.99867	-7.31;-7.31	5.72	5.72	0.89469	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	H	0.96518	3.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.96414	0.9306	10	0.87932	D	0	.	15.3771	0.74615	0.0:0.0:1.0:0.0	.	243;220;175;197	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	H	220;243;175;197;243	ENSP00000438689:Q220H;ENSP00000344152:Q175H	ENSP00000325395:Q197H	Q	+	3	2	ACADVL	7065694	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.815000	0.75242	2.709000	0.92574	0.561000	0.74099	CAG		0.577	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		10	60	0	0	0	1	0	10	60				
PCDHGB2	56103	broad.mit.edu	37	5	140741740	140741740	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140741740G>A	ENST00000522605.1	+	1	2038	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	680					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCGCCGGGAGCCCTCTGA	0.597																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(2038-2040)Gag>Aag									62.0	66.0	65.0					5																	140741740		2025	4178	6203	SO:0001583	missense	56103							g.chr5:140741740G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2038G>A	5.37:g.140741740G>A	ENSP00000429018:p.Glu680Lys					PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.E680K	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2038	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.2038G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	3.170	-0.170257	0.06461	.	.	ENSG00000253910	ENST00000522605	T	0.49432	0.78	4.95	-1.99	0.07457	.	.	.	.	.	T	0.25494	0.0620	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.10450	0.005;0.004	T	0.21895	-1.0232	9	0.16896	T	0.51	.	0.7654	0.01014	0.219:0.2067:0.3438:0.2305	.	680;680	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	K	680	ENSP00000429018:E680K	ENSP00000429018:E680K	E	+	1	0	PCDHGB2	140721924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.142000	0.16096	-0.278000	0.09180	0.454000	0.30748	GAG		0.597	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		13	74	0	0	0	1	0	13	74				
OLFML1	283298	broad.mit.edu	37	11	7507148	7507148	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:7507148G>C	ENST00000329293.3	+	1	436	c.42G>C	c.(40-42)ctG>ctC	p.L14L	OLFML1_ENST00000530135.1_Silent_p.L14L|OLFML1_ENST00000528758.1_Silent_p.L14L|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	14						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCTGGTTCTGTTCCTTGCAG	0.547																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(40-42)ctG>ctC		olfactomedin-like 1							165.0	139.0	148.0					11																	7507148		2201	4296	6497	SO:0001819	synonymous_variant	283298					extracellular region		g.chr11:7507148G>C	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.42G>C	11.37:g.7507148G>C						OLFML1_ENST00000530135.1_Silent_p.L14L|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Silent_p.L14L	p.L14L	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	1	436	+			14					B4DP03|Q569G4	Silent	SNP	ENST00000329293.3	37	c.42G>C	CCDS7779.1																																																																																				0.547	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		15	77	0	0	0	1	0	15	77				
LRRC4C	57689	broad.mit.edu	37	11	40137246	40137246	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:40137246C>G	ENST00000278198.2	-	2	2560	c.597G>C	c.(595-597)ttG>ttC	p.L199F	LRRC4C_ENST00000528697.1_Missense_Mutation_p.L199F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L199F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L199F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	199					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAAATACCTCAAGTTGGACA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(595-597)ttG>ttC		leucine rich repeat containing 4C							93.0	90.0	91.0					11																	40137246		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137246C>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.597G>C	11.37:g.40137246C>G	ENSP00000278198:p.Leu199Phe					LRRC4C_ENST00000527150.1_Missense_Mutation_p.L199F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L199F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L199F	p.L199F			Q9HCJ2	LRC4C_HUMAN			2	2560	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	199					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.597G>C	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651196	0.47362	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.69124	0.3076	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79227	-0.1890	10	0.87932	D	0	.	14.6696	0.68934	0.0:0.8551:0.1449:0.0	.	199	Q9HCJ2	LRC4C_HUMAN	F	199	ENSP00000278198:L199F;ENSP00000436976:L199F;ENSP00000437132:L199F;ENSP00000434761:L199F	ENSP00000278198:L199F	L	-	3	2	LRRC4C	40093822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.991000	0.40727	2.754000	0.94517	0.650000	0.86243	TTG		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		14	103	0	0	0	1	0	14	103				
FAT4	79633	broad.mit.edu	37	4	126408679	126408679	+	Silent	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:126408679T>C	ENST00000394329.3	+	16	13009	c.12996T>C	c.(12994-12996)acT>acC	p.T4332T	FAT4_ENST00000335110.5_Silent_p.T2573T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4332	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCACCCTACTCAGGACTTCG	0.423																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12994-12996)acT>acC		FAT atypical cadherin 4							76.0	75.0	76.0					4																	126408679		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408679T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12996T>C	4.37:g.126408679T>C						FAT4_ENST00000335110.5_Silent_p.T2573T	p.T4332T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			16	13009	+			4332			Laminin G-like 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12996T>C	CCDS3732.3																																																																																				0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	35	0	0	0	1	0	13	35				
C21orf91	54149	broad.mit.edu	37	21	19169332	19169332	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:19169332C>G	ENST00000400558.3	-	3	321	c.231G>C	c.(229-231)aaG>aaC	p.K77N	C21orf91_ENST00000284881.4_Missense_Mutation_p.K77N|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Missense_Mutation_p.K77N	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TTTTTGAAAGCTTAGATCGAG	0.358																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(229-231)aaG>aaC		chromosome 21 open reading frame 91							74.0	70.0	71.0					21																	19169332		1833	4072	5905	SO:0001583	missense	54149							g.chr21:19169332C>G	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.231G>C	21.37:g.19169332C>G	ENSP00000383403:p.Lys77Asn					C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400558.3_Missense_Mutation_p.K77N|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Missense_Mutation_p.K77N	p.K77N	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	321	-			77						Missense_Mutation	SNP	ENST00000400558.3	37	c.231G>C	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479012	0.63849	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.94	1.46	0.22682	.	0.129657	0.64402	N	0.000002	T	0.19406	0.0466	M	0.68952	2.095	0.80722	D	1	B;B	0.21452	0.046;0.056	B;B	0.26202	0.04;0.067	T	0.04140	-1.0974	9	.	.	.	-18.7029	5.2463	0.15498	0.0:0.4901:0.1469:0.363	.	77;77	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	N	77	ENSP00000284881:K77N;ENSP00000383404:K77N;ENSP00000383403:K77N;ENSP00000385566:K77N	.	K	-	3	2	C21orf91	18091203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.063000	0.30567	0.370000	0.24538	0.650000	0.86243	AAG		0.358	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		13	72	0	0	0	1	0	13	72				
IGFBP4	3487	broad.mit.edu	37	17	38609380	38609380	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:38609380G>A	ENST00000269593.4	+	2	768	c.493G>A	c.(493-495)Gat>Aat	p.D165N	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D65N	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	165					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCCCCGGGAGGATGCCCGGCC	0.612																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(493-495)Gat>Aat		insulin-like growth factor binding protein 4							51.0	52.0	52.0					17																	38609380		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38609380G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.493G>A	17.37:g.38609380G>A	ENSP00000269593:p.Asp165Asn					IGFBP4_ENST00000542955.1_Missense_Mutation_p.D65N	p.D165N	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		2	768	+		Breast(137;0.000496)	165					A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.493G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477064	0.44044	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.25749	1.78;2.12	5.92	4.95	0.65309	Thyroglobulin type-1 (1);	1.126950	0.06426	N	0.723277	T	0.24314	0.0589	L	0.36672	1.1	0.30558	N	0.764837	B	0.28128	0.201	B	0.27608	0.081	T	0.21895	-1.0232	10	0.17832	T	0.49	.	12.965	0.58480	0.0755:0.0:0.9245:0.0	.	165	P22692	IBP4_HUMAN	N	65;165	ENSP00000437734:D65N;ENSP00000269593:D165N	ENSP00000269593:D165N	D	+	1	0	IGFBP4	35862906	1.000000	0.71417	0.982000	0.44146	0.871000	0.50021	5.401000	0.66326	1.510000	0.48803	0.655000	0.94253	GAT		0.612	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		5	28	0	0	0	1	0	5	28				
RAD23A	5886	broad.mit.edu	37	19	13059952	13059952	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:13059952G>C	ENST00000586534.1	+	6	719	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.E220Q|RAD23A_ENST00000541222.1_Missense_Mutation_p.E55Q|RAD23A_ENST00000316856.3_Missense_Mutation_p.E220Q			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	220					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCAGGTATCGGAGCAGCCGGC	0.612								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(658-660)Gag>Cag	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							41.0	47.0	45.0					19																	13059952		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059952G>C		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.658G>C	19.37:g.13059952G>C	ENSP00000467024:p.Glu220Gln					RAD23A_ENST00000316856.3_Missense_Mutation_p.E220Q|RAD23A_ENST00000541222.1_Missense_Mutation_p.E55Q|RAD23A_ENST00000592268.1_Missense_Mutation_p.E220Q|RAD23A_ENST00000588826.2_3'UTR	p.E220Q			P54725	RD23A_HUMAN			6	719	+			220					K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.658G>C	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635859	0.14386	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.22743	2.25;1.94	4.57	4.57	0.56435	.	0.136912	0.47093	D	0.000243	T	0.12305	0.0299	N	0.08118	0	0.30929	N	0.727174	P;B;B	0.35793	0.521;0.012;0.263	B;B;B	0.38683	0.279;0.017;0.207	T	0.09552	-1.0669	10	0.17369	T	0.5	-23.5408	14.2914	0.66281	0.0:0.0:1.0:0.0	.	220;237;220	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	Q	220;55	ENSP00000321365:E220Q;ENSP00000438741:E55Q	ENSP00000321365:E220Q	E	+	1	0	RAD23A	12920952	0.996000	0.38824	0.700000	0.30305	0.914000	0.54420	4.655000	0.61476	2.096000	0.63516	0.655000	0.94253	GAG		0.612	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		3	29	0	0	0	1	0	3	29				
FAM83H	286077	broad.mit.edu	37	8	144810838	144810838	+	Missense_Mutation	SNP	C	C	G	rs372023850		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:144810838C>G	ENST00000388913.3	-	5	918	c.793G>C	c.(793-795)Gag>Cag	p.E265Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	265					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGACCAGCTCTCCTTGGAAC	0.657																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(793-795)Gag>Cag		family with sequence similarity 83, member H		C	GLN/GLU	0,4204		0,0,2102	25.0	30.0	28.0		793	4.8	1.0	8		28	1,8451		0,1,4225	no	missense	FAM83H	NM_198488.3	29	0,1,6327	GG,GC,CC		0.0118,0.0,0.0079	possibly-damaging	265/1180	144810838	1,12655	2102	4226	6328	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810838C>G	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.793G>C	8.37:g.144810838C>G	ENSP00000373565:p.Glu265Gln						p.E265Q	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	918	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		265					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.793G>C	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	16.52	3.147245	0.57151	0.0	1.18E-4	ENSG00000180921	ENST00000388913	T	0.10382	2.88	4.75	4.75	0.60458	.	0.135853	0.49305	D	0.000149	T	0.12689	0.0308	N	0.04373	-0.215	0.48696	D	0.99969	P	0.52061	0.95	P	0.61874	0.895	T	0.48007	-0.9072	10	0.20519	T	0.43	.	17.0716	0.86576	0.0:1.0:0.0:0.0	.	265	Q6ZRV2	FA83H_HUMAN	Q	265	ENSP00000373565:E265Q	ENSP00000373565:E265Q	E	-	1	0	FAM83H	144882826	0.998000	0.40836	0.996000	0.52242	0.920000	0.55202	3.790000	0.55461	2.326000	0.78906	0.561000	0.74099	GAG		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		6	47	0	0	0	1	0	6	47				
FANCC	2176	broad.mit.edu	37	9	97869405	97869405	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr9:97869405G>C	ENST00000289081.3	-	14	1730	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L	FANCC_ENST00000375305.1_Silent_p.L492L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	492					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCAGGAAGTTGAGGAGAAGGT	0.587			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1474-1476)ctC>ctG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							243.0	197.0	212.0					9																	97869405		2203	4300	6503	SO:0001819	synonymous_variant	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97869405G>C	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1476C>G	9.37:g.97869405G>C						FANCC_ENST00000375305.1_Silent_p.L492L	p.L492L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			14	1730	-		Acute lymphoblastic leukemia(62;0.138)	492					B1ALR8	Silent	SNP	ENST00000289081.3	37	c.1476C>G	CCDS35071.1																																																																																				0.587	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		8	46	0	0	0	1	0	8	46				
ZNF99	7652	broad.mit.edu	37	19	22952004	22952004	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:22952004G>A	ENST00000596209.1	-	2	216	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF99_ENST00000397104.3_Silent_p.F63F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTCACCCAGGAAGACCAGGT	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(187-189)ttC>ttT		zinc finger protein 99							71.0	78.0	76.0					19																	22952004		2201	4300	6501	SO:0001819	synonymous_variant	7652							g.chr19:22952004G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.126C>T	19.37:g.22952004G>A						ZNF99_ENST00000596209.1_Silent_p.F42F	p.F63F							2	188	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.189C>T	CCDS59369.1																																																																																				0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		11	105	0	0	0	1	0	11	105				
KBTBD12	166348	broad.mit.edu	37	3	127649076	127649076	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:127649076C>G	ENST00000405109.1	+	4	1909	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.S481C|KBTBD12_ENST00000407609.3_Missense_Mutation_p.S88C|KBTBD12_ENST00000343941.4_Missense_Mutation_p.S56C			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	481										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ATGAAGTACTCTAAGTACCGA	0.418																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1441-1443)tCt>tGt		kelch repeat and BTB (POZ) domain containing 12							83.0	70.0	74.0					3																	127649076		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127649076C>G		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1442C>G	3.37:g.127649076C>G	ENSP00000385957:p.Ser481Cys					KBTBD12_ENST00000343941.4_Missense_Mutation_p.S56C|KBTBD12_ENST00000405256.1_Missense_Mutation_p.S481C|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.S88C	p.S481C			Q3ZCT8	KBTBC_HUMAN			4	1909	+			481					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1442C>G	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978982	0.92982	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.27	5.91	5.91	0.95273	Kelch-type beta propeller (1);	0.108206	0.41712	D	0.000825	T	0.78855	0.4349	L	0.56396	1.775	0.80722	D	1	D;D	0.63880	0.993;0.99	P;P	0.60541	0.876;0.875	T	0.78336	-0.2243	10	0.59425	D	0.04	.	20.2892	0.98540	0.0:1.0:0.0:0.0	.	481;56	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	C	481;88;481;56	ENSP00000385957:S481C;ENSP00000385830:S88C;ENSP00000385879:S481C;ENSP00000345478:S56C	ENSP00000345478:S56C	S	+	2	0	KBTBD12	129131766	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	7.487000	0.81328	2.801000	0.96364	0.573000	0.79308	TCT		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		3	33	0	0	0	1	0	3	33				
PGBD4	161779	broad.mit.edu	37	15	34395407	34395407	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:34395407G>A	ENST00000397766.2	+	1	1134	c.675G>A	c.(673-675)aaG>aaA	p.K225K	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	225										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CATTGCAGAAGATCAAACCTG	0.378																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(673-675)aaG>aaA		piggyBac transposable element derived 4							86.0	84.0	85.0					15																	34395407		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395407G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.675G>A	15.37:g.34395407G>A							p.K225K	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1134	+		all_lung(180;1.76e-08)	225					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.675G>A	CCDS10033.1																																																																																				0.378	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			11	62	0	0	0	1	0	11	62				
EPS8L1	54869	broad.mit.edu	37	19	55597234	55597234	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:55597234G>C	ENST00000201647.6	+	15	1467	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	EPS8L1_ENST00000540810.1_Missense_Mutation_p.E407Q|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E344Q|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E485Q|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E157Q	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	471					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCAGAATCTGAGCCTCAGCT	0.582																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1411-1413)Gag>Cag		EPS8-like 1							75.0	77.0	76.0					19																	55597234		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55597234G>C	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1411G>C	19.37:g.55597234G>C	ENSP00000201647:p.Glu471Gln					EPS8L1_ENST00000586329.1_Missense_Mutation_p.E485Q|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E407Q|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E344Q|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E157Q	p.E471Q	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	15	1467	+			471					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1411G>C	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624944	0.28889	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05786	3.66;3.4;3.39	3.27	3.27	0.37495	Src homology-3 domain (1);	1.902390	0.02544	N	0.094925	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	0.999992	D;P;P;B	0.58268	0.982;0.865;0.928;0.158	D;B;P;B	0.63033	0.91;0.314;0.653;0.05	T	0.40701	-0.9549	10	0.17832	T	0.49	-23.9978	10.7285	0.46083	0.0:0.0:1.0:0.0	.	485;250;344;471	Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	Q	485;471;407;344;157	ENSP00000201647:E471Q;ENSP00000437541:E407Q;ENSP00000245618:E344Q	ENSP00000201647:E471Q	E	+	1	0	EPS8L1	60289046	0.909000	0.30893	0.204000	0.23530	0.054000	0.15201	2.492000	0.45311	1.780000	0.52325	0.555000	0.69702	GAG		0.582	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		11	71	0	0	0	1	0	11	71				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			3128							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	17	1	0	0.004672	1	0.00476853	3	17				
UNC79	57578	broad.mit.edu	37	14	94004426	94004426	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:94004426A>G	ENST00000393151.2	+	12	1214	c.1214A>G	c.(1213-1215)aAg>aGg	p.K405R	UNC79_ENST00000555664.1_Missense_Mutation_p.K405R|UNC79_ENST00000553484.1_Missense_Mutation_p.K405R|UNC79_ENST00000256339.4_Missense_Mutation_p.K228R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	405					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGGTACTGCAAGAGGTGCCAC	0.567																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1213-1215)aAg>aGg		unc-79 homolog (C. elegans)							77.0	72.0	74.0					14																	94004426		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94004426A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1214A>G	14.37:g.94004426A>G	ENSP00000376858:p.Lys405Arg					UNC79_ENST00000555664.1_Missense_Mutation_p.K405R|UNC79_ENST00000256339.4_Missense_Mutation_p.K228R|UNC79_ENST00000393151.2_Missense_Mutation_p.K405R	p.K405R			Q9P2D8	UNC79_HUMAN			12	1368	+			405					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1214A>G		.	.	.	.	.	.	.	.	.	.	A	21.0	4.075274	0.76415	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.36672	1.1	0.37995	D	0.934055	D;D	0.61697	0.99;0.974	D;D	0.72982	0.979;0.969	T	0.18935	-1.0321	10	0.44086	T	0.13	-21.6495	16.0737	0.80955	1.0:0.0:0.0:0.0	.	405;405	C9JQL1;Q9P2D8	.;UNC79_HUMAN	R	228;405;405;405;405	ENSP00000256339:K228R;ENSP00000450868:K405R;ENSP00000451360:K405R;ENSP00000376858:K405R	ENSP00000256339:K228R	K	+	2	0	KIAA1409	93074179	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	7.225000	0.78051	2.248000	0.74166	0.459000	0.35465	AAG		0.567	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	61	0	0	0	1	0	12	61				
PGAP1	80055	broad.mit.edu	37	2	197708800	197708800	+	Splice_Site	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:197708800C>T	ENST00000354764.4	-	25	2452		c.e25-1			NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTTTGGGATTCTATAAAACAA	0.303																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.e25-1		post-GPI attachment to proteins 1							82.0	76.0	78.0					2																	197708800		2203	4300	6503	SO:0001630	splice_region_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197708800C>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2338-1G>A	2.37:g.197708800C>T								NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			25	2452	-								Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Splice_Site	SNP	ENST00000354764.4	37		CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012468	0.54468	.	.	ENSG00000197121	ENST00000354764;ENST00000422444	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5096	0.61504	0.1566:0.8434:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGAP1	197417045	1.000000	0.71417	0.964000	0.40570	0.923000	0.55619	3.212000	0.51145	2.390000	0.81377	0.455000	0.32223	.		0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	Intron	14	17	0	0	0	1	0	14	17				
PRRC2A	7916	broad.mit.edu	37	6	31593070	31593070	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:31593070G>A	ENST00000376033.2	+	6	820	c.586G>A	c.(586-588)Gga>Aga	p.G196R	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G196R|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	196	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						GTCTGGGCCCGGACCAAGCCT	0.582																																						ENST00000376033.2																			0				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						c.(586-588)Gga>Aga		proline-rich coiled-coil 2A							59.0	64.0	62.0					6																	31593070		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31593070G>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.586G>A	6.37:g.31593070G>A	ENSP00000365201:p.Gly196Arg					PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G196R	p.G196R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			6	820	+			196			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.586G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680367	0.47886	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.02737	4.18;4.18	4.56	4.56	0.56223	.	0.000000	0.49305	D	0.000159	T	0.10078	0.0247	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01283	-1.1396	10	0.87932	D	0	-8.0727	16.6015	0.84817	0.0:0.0:1.0:0.0	.	196;196	B4DZ56;P48634	.;PRC2A_HUMAN	R	196	ENSP00000365175:G196R;ENSP00000365201:G196R	ENSP00000365175:G196R	G	+	1	0	PRRC2A	31701049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.191000	0.94940	2.527000	0.85204	0.655000	0.94253	GGA		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		9	61	0	0	0	1	0	9	61				
EIF2B4	8890	broad.mit.edu	37	2	27587375	27587375	+	Silent	SNP	G	G	T	rs1058076		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:27587375G>T	ENST00000347454.4	-	13	1635	c.1464C>A	c.(1462-1464)gtC>gtA	p.V488V	AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Silent_p.V487V|EIF2B4_ENST00000493344.2_Silent_p.V509V|EIF2B4_ENST00000451130.2_Silent_p.V508V	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	488					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACATCATAGACTAGATTCA	0.517																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(1525-1527)gtC>gtA		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							150.0	128.0	135.0					2																	27587375		2203	4300	6503	SO:0001819	synonymous_variant	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27587375G>T	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1464C>A	2.37:g.27587375G>T						EIF2B4_ENST00000445933.2_Silent_p.V487V|EIF2B4_ENST00000451130.2_Silent_p.V508V|EIF2B4_ENST00000347454.4_Silent_p.V488V|AC074117.10_ENST00000412749.1_RNA	p.V509V			Q9UI10	EI2BD_HUMAN			12	1839	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		488					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Silent	SNP	ENST00000347454.4	37	c.1527C>A	CCDS33164.1																																																																																				0.517	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			13	53	1	0	4.36969e-10	1	4.77572e-10	13	53				
WNT16	51384	broad.mit.edu	37	7	120978954	120978954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:120978954C>A	ENST00000222462.2	+	4	943	c.653C>A	c.(652-654)tCa>tAa	p.S218*	WNT16_ENST00000361301.2_Nonsense_Mutation_p.S208*	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	218					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AAGTTGATGTCAGTAGACTGC	0.413																																						ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(652-654)tCa>tAa		wingless-type MMTV integration site family, member 16							52.0	53.0	53.0					7																	120978954		2203	4300	6503	SO:0001587	stop_gained	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120978954C>A	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.653C>A	7.37:g.120978954C>A	ENSP00000222462:p.Ser218*					WNT16_ENST00000361301.2_Nonsense_Mutation_p.S208*	p.S218*	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			4	943	+	all_neural(327;0.117)		218					Q2M3G1|Q9Y5C0	Nonsense_Mutation	SNP	ENST00000222462.2	37	c.653C>A	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	C	38	6.929529	0.97944	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	.	.	.	5.51	5.51	0.81932	.	0.251792	0.42548	D	0.000694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.7796	0.96412	0.0:1.0:0.0:0.0	.	.	.	.	X	208;218	.	ENSP00000222462:S218X	S	+	2	0	WNT16	120766190	0.994000	0.37717	0.995000	0.50966	0.995000	0.86356	3.113000	0.50376	2.756000	0.94617	0.655000	0.94253	TCA		0.413	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		8	36	1	0	2.17888e-05	1	2.28044e-05	8	36				
RPLP0	6175	broad.mit.edu	37	12	120636522	120636522	+	Missense_Mutation	SNP	C	C	G	rs377314568		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:120636522C>G	ENST00000551150.1	-	5	801	c.486G>C	c.(484-486)aaG>aaC	p.K162N	RPLP0_ENST00000392514.4_Missense_Mutation_p.K162N|RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000228306.4_Missense_Mutation_p.K162N|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000546989.1_Intron|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000313104.5_Intron			P05388	RLA0_HUMAN	ribosomal protein, large, P0	162					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCTCCAGTCTTGATCAGCT	0.522																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(484-486)aaG>aaC		ribosomal protein, large, P0							64.0	63.0	63.0					12																	120636522		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636522C>G	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.486G>C	12.37:g.120636522C>G	ENSP00000449328:p.Lys162Asn					RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.K162N|RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.K162N	p.K162N			P05388	RLA0_HUMAN			5	801	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		162					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.486G>C	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260866	0.59431	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191	T	0.52526	0.66	5.61	2.83	0.33086	.	0.057459	0.64402	U	0.000002	T	0.53094	0.1775	M	0.88640	2.97	0.53005	D	0.999962	B	0.17465	0.022	B	0.17722	0.019	T	0.53599	-0.8416	10	0.59425	D	0.04	.	10.6977	0.45909	0.0:0.7944:0.0:0.2056	.	162	P05388	RLA0_HUMAN	N	162;162;162;113;142;162;148	ENSP00000447311:K113N	ENSP00000339027:K162N	K	-	3	2	RPLP0	119120905	1.000000	0.71417	0.994000	0.49952	0.723000	0.41478	2.457000	0.45005	0.340000	0.23745	-0.140000	0.14226	AAG		0.522	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		12	69	0	0	0	1	0	12	69				
TRAPPC4	51399	broad.mit.edu	37	11	118889511	118889511	+	Silent	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:118889511G>T	ENST00000533632.1	+	1	370	c.6G>T	c.(4-6)gcG>gcT	p.A2A	TRAPPC4_ENST00000359005.4_Silent_p.A2A|TRAPPC4_ENST00000528230.1_Silent_p.A2A|TRAPPC4_ENST00000533058.1_Silent_p.A2A|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_Silent_p.A2A|TRAPPC4_ENST00000434101.2_Silent_p.A2A|RPS25_ENST00000528547.1_5'Flank|RPS25_ENST00000527673.1_5'Flank	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	2					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGCGATGGCGATTTTTAGTG	0.592																																						ENST00000533632.1																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(4-6)gcG>gcT		trafficking protein particle complex 4							139.0	132.0	135.0					11																	118889511		2200	4295	6495	SO:0001819	synonymous_variant	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889511G>T	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.6G>T	11.37:g.118889511G>T						TRAPPC4_ENST00000434101.2_Silent_p.A2A|TRAPPC4_ENST00000525303.1_Silent_p.A2A|TRAPPC4_ENST00000533058.1_Silent_p.A2A|TRAPPC4_ENST00000359005.4_Silent_p.A2A|TRAPPC4_ENST00000528230.1_Silent_p.A2A	p.A2A	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	1	370	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	2					A8K3A5|B4DME1	Silent	SNP	ENST00000533632.1	37	c.6G>T	CCDS8407.1																																																																																				0.592	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		39	123	1	0	7.53189e-24	1	8.45626e-24	39	123				
HMMR	3161	broad.mit.edu	37	5	162911099	162911099	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:162911099G>C	ENST00000358715.3	+	16	1843	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.E588Q|HMMR_ENST00000393915.4_Missense_Mutation_p.E604Q|HMMR_ENST00000432118.2_Missense_Mutation_p.E517Q|RP11-80G7.1_ENST00000521666.1_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	603					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTTTGAAGTAGAAAAACAGGC	0.294																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1465-1467)Gaa>Caa		hyaluronan-mediated motility receptor (RHAMM)							40.0	44.0	42.0					5																	162911099		2203	4298	6501	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162911099G>C	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1807G>C	5.37:g.162911099G>C	ENSP00000351554:p.Glu603Gln					HMMR_ENST00000393915.4_Missense_Mutation_p.E604Q|HMMR_ENST00000358715.3_Missense_Mutation_p.E603Q|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.E588Q|HMMR_ENST00000432118.2_Missense_Mutation_p.E517Q	p.E489Q			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	16	1962	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	603					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.1465G>C	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500624	0.85176	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.45	5.45	0.79879	.	0.091688	0.64402	D	0.000001	T	0.62490	0.2432	M	0.76328	2.33	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.71414	0.967;0.883;0.973;0.973	T	0.64833	-0.6314	10	0.72032	D	0.01	-5.1275	19.6422	0.95763	0.0:0.0:1.0:0.0	.	517;604;588;603	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	Q	489;588;604;580;517;603	ENSP00000400527:E489Q;ENSP00000185942:E588Q;ENSP00000377492:E604Q;ENSP00000402673:E517Q;ENSP00000351554:E603Q	ENSP00000185942:E588Q	E	+	1	0	HMMR	162843677	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.523000	0.73787	2.712000	0.92718	0.650000	0.86243	GAA		0.294	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	42	0	0	0	1	0	8	42				
ATP2A3	489	broad.mit.edu	37	17	3844845	3844845	+	Missense_Mutation	SNP	C	C	T	rs199531686		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:3844845C>T	ENST00000352011.3	-	13	1703	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397041.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000309890.7_Missense_Mutation_p.R550Q			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	550					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCCAATCCCGGATCTTTGC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		18120	0.001		0.0	False		,,,				2504	0.0				GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1648-1650)cGg>cAg		ATPase, Ca++ transporting, ubiquitous							62.0	65.0	64.0					17																	3844845		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844845C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1649G>A	17.37:g.3844845C>T	ENSP00000301387:p.Arg550Gln					ATP2A3_ENST00000352011.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397041.3_Missense_Mutation_p.R550Q	p.R550Q	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1799	-			550					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1649G>A	CCDS11041.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.84	2.951181	0.53186	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.02	3.05	0.35203	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.063185	0.64402	D	0.000007	T	0.78660	0.4318	N	0.04686	-0.185	0.51767	D	0.999936	D;B;B;B;B;B	0.76494	0.999;0.001;0.05;0.04;0.04;0.04	D;B;B;B;B;B	0.77557	0.99;0.003;0.041;0.024;0.024;0.024	T	0.75952	-0.3136	10	0.24483	T	0.36	.	11.7862	0.52043	0.0:0.9122:0.0:0.0878	.	550;550;550;550;550;550	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	Q	550	ENSP00000380236:R550Q;ENSP00000301387:R550Q;ENSP00000353072:R550Q;ENSP00000380234:R550Q;ENSP00000312577:R550Q;ENSP00000380229:R550Q	ENSP00000312577:R550Q	R	-	2	0	ATP2A3	3791594	0.984000	0.35163	0.990000	0.47175	0.979000	0.70002	2.553000	0.45837	1.277000	0.44412	0.561000	0.74099	CGG		0.667	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		16	64	0	0	0	1	0	16	64				
TONSL	4796	broad.mit.edu	37	8	145659007	145659007	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:145659007G>C	ENST00000409379.3	-	22	3552	c.3523C>G	c.(3523-3525)Ctg>Gtg	p.L1175V	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1175					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGGTGGCTCAGAAAGAAGCTG	0.647																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3523-3525)Ctg>Gtg		tonsoku-like, DNA repair protein							62.0	68.0	66.0					8																	145659007		2202	4300	6502	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659007G>C		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3523C>G	8.37:g.145659007G>C	ENSP00000386239:p.Leu1175Val						p.L1175V	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			22	3552	-			1175					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3523C>G	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	g	7.175	0.588375	0.13812	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.53423	0.62	5.2	3.33	0.38152	.	0.234802	0.35207	N	0.003367	T	0.18341	0.0440	N	0.01576	-0.805	0.23913	N	0.996486	B	0.27559	0.181	B	0.22880	0.042	T	0.13176	-1.0519	10	0.37606	T	0.19	-3.9438	8.3326	0.32195	0.0844:0.0:0.7622:0.1534	.	1175	Q96HA7	TONSL_HUMAN	V	1175;1174	ENSP00000386239:L1175V	ENSP00000386239:L1175V	L	-	1	2	TONSL	145629815	1.000000	0.71417	0.970000	0.41538	0.016000	0.09150	3.314000	0.51943	1.196000	0.43129	0.462000	0.41574	CTG		0.647	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		13	100	0	0	0	1	0	13	100				
MACF1	23499	broad.mit.edu	37	1	39798523	39798523	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:39798523G>A	ENST00000372915.3	+	36	6365	c.6278G>A	c.(6277-6279)aGa>aAa	p.R2093K	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2125K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.R2088K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.R528K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2093					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)			CAAAAAGAGAGAAATCCAAAC	0.378																																						ENST00000564288.1																			0				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						c.(6262-6264)aGa>aAa		microtubule-actin crosslinking factor 1							42.0	45.0	44.0					1																	39798523		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.chr1:39798523G>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.6278G>A	1.37:g.39798523G>A	ENSP00000362006:p.Arg2093Lys					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2125K|MACF1_ENST00000289893.4_Missense_Mutation_p.R528K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.R2093K	p.R2088K			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)		37	7040	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2093					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6263G>A		.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887730	0.02511	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60672	0.17;1.25	5.91	-0.833	0.10782	.	0.756370	0.12199	N	0.490492	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.02654	T	1	.	4.469	0.11703	0.3868:0.0:0.4271:0.1861	.	2093	Q9UPN3	MACF1_HUMAN	K	2093;528	ENSP00000362006:R2093K;ENSP00000289893:R528K	ENSP00000289893:R528K	R	+	2	0	MACF1	39571110	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.361000	0.07612	-0.176000	0.10707	0.462000	0.41574	AGA		0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	41	0	0	0	1	0	7	41				
SHANK2	22941	broad.mit.edu	37	11	70338481	70338481	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:70338481G>A	ENST00000423696.2	-	12	1297	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	SHANK2_ENST00000409161.1_Missense_Mutation_p.R204W|SHANK2_ENST00000357171.3_Missense_Mutation_p.R212W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R205W|SHANK2_ENST00000409530.1_Missense_Mutation_p.R211W|SHANK2_ENST00000338508.4_Missense_Mutation_p.R801W|SHANK2_ENST00000449116.2_Missense_Mutation_p.R202W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	421					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGCTGGGCCGCTGCTTGATG	0.652																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2401-2403)Cgg>Tgg		SH3 and multiple ankyrin repeat domains 2							33.0	33.0	33.0					11																	70338481		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70338481G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1261C>T	11.37:g.70338481G>A	ENSP00000394536:p.Arg421Trp					SHANK2_ENST00000449833.2_Missense_Mutation_p.R205W|SHANK2_ENST00000357171.3_Missense_Mutation_p.R212W|SHANK2_ENST00000449116.2_Missense_Mutation_p.R202W|SHANK2_ENST00000423696.2_Missense_Mutation_p.R421W|SHANK2_ENST00000409530.1_Missense_Mutation_p.R211W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R204W	p.R801W			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		29	2400	-			421					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2401C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.778717|4.778717	0.90195|0.90195	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	.|T;T;T;T;T;T;T;T;T	.|0.63913	.|2.04;2.04;2.7;0.74;2.15;2.17;0.45;-0.07;0.29	4.53|4.53	3.6|3.6	0.41247|0.41247	.|.	.|0.331935	.|0.28877	.|N	.|0.013860	T|T	0.78477|0.78477	0.4289|0.4289	M|M	0.77103|0.77103	2.36|2.36	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	.|0.976;0.99;1.0;0.994	T|T	0.81491|0.81491	-0.0909|-0.0909	5|10	.|0.87932	.|D	.|0	.|.	14.091|14.091	0.64990|0.64990	0.0:0.0:0.8482:0.1518|0.0:0.0:0.8482:0.1518	.|.	.|202;421;800;205	.|B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4	.|.;SHAN2_HUMAN;.;.	V|W	210|205;204;79;801;421;439;424;211;202;212	.|ENSP00000399423:R205W;ENSP00000386491:R204W;ENSP00000402944:R79W;ENSP00000345193:R801W;ENSP00000394536:R421W;ENSP00000294018:R424W;ENSP00000387324:R211W;ENSP00000394939:R202W;ENSP00000349694:R212W	.|ENSP00000294018:R424W	A|R	-|-	2|1	0|2	SHANK2|SHANK2	70016129|70016129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.054000|7.054000	0.76649|0.76649	1.011000|1.011000	0.39340|0.39340	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.652	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		7	204	0	0	0	1	0	7	204				
MT-ND5	4540	broad.mit.edu	37	M	14133	14133	+	Silent	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrM:14133A>G	ENST00000361567.2	+	1	1797	c.1797A>G	c.(1795-1797)ctA>ctG	p.L599L	MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ATCCTAACCCTACTCCTAATC	0.398																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1795-1797)ctA>ctG		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14133A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1797A>G	M.37:g.14133A>G							p.L599L			P03915	NU5M_HUMAN			1	1797	+			599					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1797A>G																																																																																					0.398	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		13	2	0	0	0	1	0	13	2				
ABCC5	10057	broad.mit.edu	37	3	183665224	183665224	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:183665224C>T	ENST00000334444.6	-	23	3542	c.3302G>A	c.(3301-3303)cGg>cAg	p.R1101Q	ABCC5_ENST00000265586.6_Missense_Mutation_p.R1058Q	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1101	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GAGGTCCAGCCGCACAGCCAG	0.547																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3301-3303)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							51.0	62.0	58.0					3																	183665224		2051	4201	6252	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665224C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3302G>A	3.37:g.183665224C>T	ENSP00000333926:p.Arg1101Gln					ABCC5_ENST00000265586.6_Missense_Mutation_p.R1058Q	p.R1101Q	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3542	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1101			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3302G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895729	0.97081	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.87334	-2.24;-2.24	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97453	1.0029	10	0.62326	D	0.03	-21.4497	19.4656	0.94935	0.0:1.0:0.0:0.0	.	1058;1101	Q86UX3;O15440	.;MRP5_HUMAN	Q	1101;1058	ENSP00000333926:R1101Q;ENSP00000265586:R1058Q	ENSP00000265586:R1058Q	R	-	2	0	ABCC5	185147918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.802000	0.85969	2.607000	0.88179	0.655000	0.94253	CGG		0.547	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		3	44	0	0	0	1	0	3	44				
CNTNAP4	85445	broad.mit.edu	37	16	76350415	76350415	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:76350415G>C	ENST00000476707.1	+	1	339	c.200G>C	c.(199-201)aGa>aCa	p.R67T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R39T|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R63T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R63T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	64	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTGAATAGAAGAGATGGTAAG	0.433																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(187-189)aGa>aCa		contactin associated protein-like 4							79.0	65.0	70.0					16																	76350415		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76350415G>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.200G>C	16.37:g.76350415G>C	ENSP00000417628:p.Arg67Thr					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R39T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R67T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R63T	p.R63T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			3	573	+			64			F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.188G>C		.	.	.	.	.	.	.	.	.	.	G	16.86	3.238686	0.58995	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65	4.72	3.76	0.43208	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.42053	D	0.000775	D	0.98451	0.9484	.	.	.	0.45762	D	0.998654	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.87578	0.998;0.998;0.901;0.99	D	0.98994	1.0809	9	0.87932	D	0	.	10.9609	0.47385	0.0917:0.0:0.9083:0.0	.	39;67;39;64	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	T	63;63;39;67	ENSP00000306893:R63T;ENSP00000439733:R63T;ENSP00000418741:R39T;ENSP00000417628:R67T	ENSP00000306893:R63T	R	+	2	0	CNTNAP4	74907916	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	8.723000	0.91458	1.343000	0.45638	0.655000	0.94253	AGA		0.433	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		7	15	0	0	0	1	0	7	15				
CACNG7	59284	broad.mit.edu	37	19	54445537	54445537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:54445537C>A	ENST00000391767.1	+	6	1030	c.818C>A	c.(817-819)tCg>tAg	p.S273*	CACNG7_ENST00000222212.2_Nonsense_Mutation_p.S273*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	273				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATCTCCACCTCGCCCTGCTGA	0.672																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(817-819)tCg>tAg		calcium channel, voltage-dependent, gamma subunit 7							113.0	125.0	121.0					19																	54445537		2203	4300	6503	SO:0001587	stop_gained	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445537C>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.818C>A	19.37:g.54445537C>A	ENSP00000375647:p.Ser273*					CACNG7_ENST00000222212.2_Nonsense_Mutation_p.S273*	p.S273*			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	6	1030	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		273	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Nonsense_Mutation	SNP	ENST00000391767.1	37	c.818C>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	37	6.175299	0.97348	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	.	.	.	4.11	4.11	0.48088	.	0.078879	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1437	14.2034	0.65719	0.0:1.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000222212:S273X	S	+	2	0	CACNG7	59137349	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	5.544000	0.67231	2.018000	0.59344	0.491000	0.48974	TCG		0.672	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			54	139	1	0	1.27862e-28	1	1.43881e-28	54	139				
PLCD1	5333	broad.mit.edu	37	3	38051768	38051768	+	Splice_Site	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:38051768T>G	ENST00000334661.4	-	7	1215		c.e7-2		PLCD1_ENST00000463876.1_Splice_Site|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1						angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CACAGTGCCCTGCGGGGAGGG	0.617																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.e7-2		phospholipase C, delta 1							86.0	87.0	87.0					3																	38051768		2203	4300	6503	SO:0001630	splice_region_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38051768T>G		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.993-2A>C	3.37:g.38051768T>G						PLCD1_ENST00000334661.4_Splice_Site		NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	7	1409	-								B3KR14|Q86VN8	Splice_Site	SNP	ENST00000334661.4	37		CCDS2671.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870157	0.51588	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9706	0.71232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCD1	38026772	1.000000	0.71417	0.985000	0.45067	0.659000	0.38960	6.078000	0.71282	2.014000	0.59158	0.455000	0.32223	.		0.617	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		Intron	11	63	0	0	0	1	0	11	63				
SHC2	25759	broad.mit.edu	37	19	440874	440874	+	Missense_Mutation	SNP	G	G	A	rs199803042	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:440874G>A	ENST00000264554.6	-	2	526	c.527C>T	c.(526-528)aCg>aTg	p.T176M		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	176	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGTCACCTGCGTGCGCGTGTT	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		17459	0.0		0.002	False		,,,				2504	0.0					ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(526-528)aCg>aTg		SHC (Src homology 2 domain containing) transforming protein 2		G	MET/THR	0,4238		0,0,2119	80.0	97.0	91.0		527	3.2	0.6	19		91	3,8481		0,3,4239	yes	missense	SHC2	NM_012435.2	81	0,3,6358	AA,AG,GG		0.0354,0.0,0.0236	possibly-damaging	176/583	440874	3,12719	2119	4242	6361	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:440874G>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.527C>T	19.37:g.440874G>A	ENSP00000264554:p.Thr176Met						p.T176M	NM_012435.2	NP_036567.2	P98077	SHC2_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)	2	526	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	176			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.527C>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610553	0.46527	0.0	3.54E-4	ENSG00000129946	ENST00000264554	T	0.17528	2.27	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.88570	2.965	0.54753	D	0.999989	D	0.56287	0.975	D	0.63957	0.92	T	0.54918	-0.8221	10	0.66056	D	0.02	-37.7157	12.6692	0.56858	0.0:0.0:1.0:0.0	.	176	P98077	SHC2_HUMAN	M	176	ENSP00000264554:T176M	ENSP00000264554:T176M	T	-	2	0	SHC2	391874	1.000000	0.71417	0.591000	0.28745	0.235000	0.25334	9.045000	0.93812	1.742000	0.51746	0.591000	0.81541	ACG		0.652	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			31	108	0	0	0	1	0	31	108				
TBXA2R	6915	broad.mit.edu	37	19	3600561	3600561	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:3600561C>T	ENST00000375190.4	-	2	465	c.72G>A	c.(70-72)ctG>ctA	p.L24L	TBXA2R_ENST00000411851.3_Silent_p.L24L|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Silent_p.L24L	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	24					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GCGAGGCGATCAGCCGTCTCT	0.697																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(70-72)ctG>ctA		thromboxane A2 receptor	Ridogrel(DB01207)						20.0	25.0	23.0					19																	3600561		2081	4190	6271	SO:0001819	synonymous_variant	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600561C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.72G>A	19.37:g.3600561C>T						TBXA2R_ENST00000411851.3_Silent_p.L24L|TBXA2R_ENST00000589966.1_Silent_p.L24L	p.L24L	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	465	-		Hepatocellular(1079;0.137)	24					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.72G>A	CCDS42467.1																																																																																				0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			5	36	0	0	0	1	0	5	36				
POLQ	10721	broad.mit.edu	37	3	121209049	121209049	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:121209049G>A	ENST00000264233.5	-	16	2857	c.2729C>T	c.(2728-2730)tCa>tTa	p.S910L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	910					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATGAGTCAATGAGCATGTACT	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2728-2730)tCa>tTa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							135.0	114.0	121.0					3																	121209049		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121209049G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2729C>T	3.37:g.121209049G>A	ENSP00000264233:p.Ser910Leu						p.S910L	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2857	-			910					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2729C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445472	0.25987	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.52057	0.68	5.62	4.74	0.60224	.	0.405725	0.24576	N	0.037352	T	0.32010	0.0815	N	0.20986	0.625	0.09310	N	1	B;B	0.27997	0.017;0.197	B;B	0.25614	0.007;0.062	T	0.17806	-1.0357	10	0.36615	T	0.2	.	10.0703	0.42328	0.1537:0.0:0.8463:0.0	.	910;82	O75417;O75417-2	DPOLQ_HUMAN;.	L	533;910;1046	ENSP00000264233:S910L	ENSP00000264233:S910L	S	-	2	0	POLQ	122691739	1.000000	0.71417	0.078000	0.20375	0.055000	0.15305	4.310000	0.59141	1.381000	0.46364	0.557000	0.71058	TCA		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		21	98	0	0	0	1	0	21	98				
RNF168	165918	broad.mit.edu	37	3	196210645	196210645	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:196210645G>C	ENST00000318037.3	-	4	1270	c.676C>G	c.(676-678)Cag>Gag	p.Q226E		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	226					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ACTTACTTCTGAATATCTCCA	0.368																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(676-678)Cag>Gag		ring finger protein 168, E3 ubiquitin protein ligase							215.0	197.0	203.0					3																	196210645		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210645G>C	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.676C>G	3.37:g.196210645G>C	ENSP00000320898:p.Gln226Glu						p.Q226E	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1270	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		226					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.676C>G	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535697	0.27475	.	.	ENSG00000163961	ENST00000318037	T	0.07021	3.23	6.06	6.06	0.98353	.	0.248833	0.28327	N	0.015759	T	0.07999	0.0200	L	0.42245	1.32	0.31827	N	0.625209	B	0.25772	0.134	B	0.17433	0.018	T	0.07809	-1.0753	10	0.25106	T	0.35	.	10.5088	0.44849	0.0:0.1428:0.7094:0.1479	.	226	Q8IYW5	RN168_HUMAN	E	226	ENSP00000320898:Q226E	ENSP00000320898:Q226E	Q	-	1	0	RNF168	197695042	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	3.498000	0.53302	2.882000	0.98803	0.655000	0.94253	CAG		0.368	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		18	124	0	0	0	1	0	18	124				
SSH1	54434	broad.mit.edu	37	12	109201498	109201498	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:109201498G>A	ENST00000326495.5	-	8	735	c.642C>T	c.(640-642)atC>atT	p.I214I	SSH1_ENST00000551165.1_Silent_p.I214I|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.I225I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	214					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTCGGAGCTGATGCAGCTCT	0.602																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(640-642)atC>atT		slingshot protein phosphatase 1							77.0	79.0	78.0					12																	109201498		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109201498G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.642C>T	12.37:g.109201498G>A						SSH1_ENST00000326470.5_Silent_p.I225I|SSH1_ENST00000551165.1_Silent_p.I214I|SSH1_ENST00000360239.3_5'UTR	p.I214I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			8	735	-			214					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.642C>T	CCDS9121.1																																																																																				0.602	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		11	80	0	0	0	1	0	11	80				
COQ6	51004	broad.mit.edu	37	14	74420205	74420205	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:74420205G>A	ENST00000334571.2	+	2	271	c.231G>A	c.(229-231)gaG>gaA	p.E77E	COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000238709.4_Missense_Mutation_p.R22K|COQ6_ENST00000554920.1_Silent_p.E77E|COQ6_ENST00000394026.4_Silent_p.E52E	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	77					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)	p.E77D(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AAGTACTGGAGAAATTGTCAG	0.393																																						ENST00000238709.4																			1	Substitution - Missense(1)	p.E77D(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(64-66)aGa>aAa		coenzyme Q6 monooxygenase							100.0	96.0	97.0					14																	74420205		2203	4300	6503	SO:0001819	synonymous_variant	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74420205G>A	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.231G>A	14.37:g.74420205G>A						COQ6_ENST00000394026.4_Silent_p.E52E|COQ6_ENST00000334571.2_Silent_p.E77E|COQ6_ENST00000554920.1_Silent_p.E77E	p.R22K			Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	2	309	+			0	VSWRRWSGA -> AVLAQVVRR (in Ref. 1; AAD27719).				B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.65G>A	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	6.032	0.374313	0.11409	.	.	ENSG00000119723	ENST00000555376;ENST00000238709;ENST00000553462;ENST00000554153;ENST00000557584;ENST00000553922;ENST00000554193;ENST00000554905;ENST00000557205;ENST00000554320;ENST00000555392	T;T	0.60040	0.88;0.22	5.37	4.46	0.54185	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.19300	N	0.999978	P;P;B;B	0.38922	0.651;0.634;0.066;0.039	B;B;B;B	0.36845	0.165;0.234;0.033;0.014	T	0.44421	-0.9329	8	0.66056	D	0.02	-0.0166	8.4559	0.32899	0.0:0.2534:0.4877:0.259	.	42;42;22;22	B7Z8E9;B7Z262;G3XA86;Q86U30	.;.;.;.	K	22;22;22;42;42;22;42;42;42;22;22	ENSP00000238709:R22K;ENSP00000451123:R22K	ENSP00000238709:R22K	R	+	2	0	COQ6	73489958	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.971000	0.29396	1.485000	0.48380	0.650000	0.86243	AGA		0.393	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			5	45	0	0	0	1	0	5	45				
EPB41L4A	64097	broad.mit.edu	37	5	111500773	111500773	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:111500773G>C	ENST00000261486.5	-	23	2251	c.1975C>G	c.(1975-1977)Cag>Gag	p.Q659E	EPB41L4A_ENST00000507810.1_Intron|EPB41L4A-AS1_ENST00000413221.2_lincRNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	659						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTAGATGTCTGAGGTTTTTCT	0.363																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1975-1977)Cag>Gag		erythrocyte membrane protein band 4.1 like 4A							161.0	137.0	145.0					5																	111500773		1818	4074	5892	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111500773G>C	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1975C>G	5.37:g.111500773G>C	ENSP00000261486:p.Gln659Glu					EPB41L4A_ENST00000507810.1_Intron	p.Q659E	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	23	2251	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	659					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1975C>G	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853516	0.32791	.	.	ENSG00000129595	ENST00000261486	D	0.82433	-1.61	5.09	5.09	0.68999	.	0.351258	0.21181	U	0.078815	T	0.72220	0.3433	N	0.19112	0.55	0.35877	D	0.828646	B	0.23316	0.083	B	0.16722	0.016	T	0.71728	-0.4505	10	0.25106	T	0.35	.	15.8005	0.78450	0.0:0.0:1.0:0.0	.	659	Q9HCS5	E41LA_HUMAN	E	659	ENSP00000261486:Q659E	ENSP00000261486:Q659E	Q	-	1	0	EPB41L4A	111528672	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.141000	0.58038	2.544000	0.85801	0.655000	0.94253	CAG		0.363	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			7	47	0	0	0	1	0	7	47				
CDH8	1006	broad.mit.edu	37	16	61935281	61935281	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:61935281C>G	ENST00000577390.1	-	3	1303	c.349G>C	c.(349-351)Gat>Cat	p.D117H	CDH8_ENST00000584337.1_Missense_Mutation_p.D117H|CDH8_ENST00000299345.6_Missense_Mutation_p.D117H|CDH8_ENST00000577730.1_Missense_Mutation_p.D117H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATGGATATCTCCAGTTACA	0.453																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(349-351)Gat>Cat		cadherin 8, type 2							123.0	120.0	121.0					16																	61935281		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935281C>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.349G>C	16.37:g.61935281C>G	ENSP00000462701:p.Asp117His					CDH8_ENST00000577730.1_Missense_Mutation_p.D117H|CDH8_ENST00000299345.6_Missense_Mutation_p.D117H|CDH8_ENST00000584337.1_Missense_Mutation_p.D117H	p.D117H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1303	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	117			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.349G>C	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151185	0.78001	.	.	ENSG00000150394	ENST00000299345	T	0.54675	0.56	6.17	6.17	0.99709	Cadherin (5);Cadherin-like (1);	0.086147	0.85682	D	0.000000	T	0.69708	0.3141	M	0.88775	2.98	0.80722	D	1	P	0.44281	0.831	P	0.46110	0.504	T	0.74819	-0.3535	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	117	P55286	CADH8_HUMAN	H	117	ENSP00000299345:D117H	ENSP00000299345:D117H	D	-	1	0	CDH8	60492782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.969000	0.49232	2.941000	0.99782	0.655000	0.94253	GAT		0.453	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		28	73	0	0	0	1	0	28	73				
NMRK2	27231	broad.mit.edu	37	19	3942109	3942109	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:3942109G>A	ENST00000168977.2	+	8	821	c.531G>A	c.(529-531)gaG>gaA	p.E177E	NMRK2_ENST00000599576.1_Missense_Mutation_p.G109R|NMRK2_ENST00000593949.1_Silent_p.E182E	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	177					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AGTCCCGAGAGGAGCTCTTCC	0.642																																						ENST00000599576.1																			0											c.(325-327)Gga>Aga		nicotinamide riboside kinase 2							47.0	46.0	47.0					19																	3942109		2202	4300	6502	SO:0001819	synonymous_variant	27231							g.chr19:3942109G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.531G>A	19.37:g.3942109G>A						NMRK2_ENST00000593949.1_Silent_p.E182E|NMRK2_ENST00000168977.2_Silent_p.E177E	p.G109R							5	389	+								B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.325G>A	CCDS12115.1																																																																																				0.642	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		14	71	0	0	0	1	0	14	71				
ESPNP	284729	broad.mit.edu	37	1	17034573	17034573	+	RNA	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:17034573C>T	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		CATTCACTCCCCTGCGGAGAC	0.701																																						ENST00000492551.1																			0																																																			284729							g.chr1:17034573C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034573C>T								NR_026567.1						0	194	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.701	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	8	0	0	0	1	0	3	8				
SLC45A2	51151	broad.mit.edu	37	5	33984673	33984673	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:33984673C>G	ENST00000296589.4	-	1	162	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	SLC45A2_ENST00000342059.3_Missense_Mutation_p.G6R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.G6R|SLC45A2_ENST00000382102.3_Missense_Mutation_p.G6R|SLC45A2_ENST00000509381.1_Missense_Mutation_p.G6R	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	6					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAGCCTGCCCACTGTTGCTA	0.567																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(16-18)Ggg>Cgg		solute carrier family 45, member 2							48.0	50.0	49.0					5																	33984673		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984673C>G	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.16G>C	5.37:g.33984673C>G	ENSP00000296589:p.Gly6Arg					SLC45A2_ENST00000509381.1_Missense_Mutation_p.G6R|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G6R|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G6R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.G6R	p.G6R	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			1	73	-			6					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.16G>C	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053287	0.55218	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	T;T;T;T	0.46451	2.23;2.18;1.49;0.87	4.74	3.85	0.44370	.	0.775620	0.12449	N	0.467932	T	0.32194	0.0821	N	0.24115	0.695	0.30842	N	0.735547	P;P;P	0.52316	0.952;0.785;0.498	B;B;B	0.43990	0.438;0.408;0.178	T	0.08889	-1.0700	10	0.26408	T	0.33	-9.33	13.3239	0.60449	0.0:0.9219:0.0:0.0781	.	6;6;6	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	R	6	ENSP00000296589:G6R;ENSP00000341014:G6R;ENSP00000371534:G6R;ENSP00000340444:G6R	ENSP00000296589:G6R	G	-	1	0	SLC45A2	34020430	0.000000	0.05858	0.917000	0.36280	0.398000	0.30690	0.716000	0.25836	2.465000	0.83290	0.551000	0.68910	GGG		0.567	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		13	49	0	0	0	1	0	13	49				
PCNXL2	80003	broad.mit.edu	37	1	233344363	233344363	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:233344363C>T	ENST00000258229.9	-	13	2998	c.2764G>A	c.(2764-2766)Gat>Aat	p.D922N	PCNXL2_ENST00000488780.2_Missense_Mutation_p.D55N|PCNXL2_ENST00000430153.1_Missense_Mutation_p.D221N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	922						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCCCTGTATCAAGAAGCAAA	0.433																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2764-2766)Gat>Aat		pecanex-like 2 (Drosophila)							117.0	111.0	113.0					1																	233344363		1907	4129	6036	SO:0001583	missense	80003					integral to membrane		g.chr1:233344363C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2764G>A	1.37:g.233344363C>T	ENSP00000258229:p.Asp922Asn					PCNXL2_ENST00000488780.2_Missense_Mutation_p.D55N|PCNXL2_ENST00000430153.1_Missense_Mutation_p.D221N	p.D922N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			13	2998	-		all_cancers(173;0.0347)|Prostate(94;0.137)	922					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2764G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085969	0.76642	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.6	4.69	0.59074	.	.	.	.	.	T	0.57989	0.2091	L	0.54323	1.7	0.50313	D	0.999866	B;B	0.20550	0.046;0.003	B;B	0.19946	0.027;0.006	T	0.54761	-0.8245	9	0.35671	T	0.21	.	14.6318	0.68660	0.0:0.93:0.0:0.07	.	221;922	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	N	922;55;91;221	ENSP00000258229:D922N;ENSP00000430820:D55N;ENSP00000429231:D91N;ENSP00000394703:D221N	ENSP00000258229:D922N	D	-	1	0	PCNXL2	231410986	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	5.737000	0.68606	1.361000	0.45981	0.655000	0.94253	GAT		0.433	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	34	0	0	0	1	0	3	34				
HTR7	3363	broad.mit.edu	37	10	92508659	92508659	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:92508659G>C	ENST00000336152.3	-	2	1258	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	HTR7_ENST00000371721.3_Nonsense_Mutation_p.S411*|HTR7_ENST00000277874.6_Nonsense_Mutation_p.S411*|HTR7_ENST00000371719.2_Nonsense_Mutation_p.S411*	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	411					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCTGCAGCTGAGAGCTTCCG	0.498																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1231-1233)tCa>tGa		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						117.0	124.0	121.0					10																	92508659		2203	4300	6503	SO:0001587	stop_gained	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508659G>C	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1232C>G	10.37:g.92508659G>C	ENSP00000337949:p.Ser411*					HTR7_ENST00000277874.6_Nonsense_Mutation_p.S411*|HTR7_ENST00000336152.3_Nonsense_Mutation_p.S411*|HTR7_ENST00000371719.2_Nonsense_Mutation_p.S411*	p.S411*			P34969	5HT7R_HUMAN			2	1474	-			411					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Nonsense_Mutation	SNP	ENST00000336152.3	37	c.1232C>G	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179761	0.94846	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7045	0.96068	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000277874:S411X	S	-	2	0	HTR7	92498639	1.000000	0.71417	0.937000	0.37676	0.687000	0.40016	9.476000	0.97823	2.664000	0.90586	0.650000	0.86243	TCA		0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		15	115	0	0	0	1	0	15	115				
CLCA1	1179	broad.mit.edu	37	1	86954766	86954766	+	Missense_Mutation	SNP	G	G	C	rs571873814	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:86954766G>C	ENST00000234701.3	+	9	1621	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.E424Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	424	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGCTTTAACGAGGTCAAACA	0.468																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1270-1272)Gag>Cag		chloride channel accessory 1							119.0	111.0	114.0					1																	86954766		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86954766G>C		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1270G>C	1.37:g.86954766G>C	ENSP00000234701:p.Glu424Gln					CLCA1_ENST00000394711.1_Missense_Mutation_p.E424Q	p.E424Q			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	9	1621	+		Lung NSC(277;0.239)	424			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1270G>C	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852579	0.32699	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.13307	2.6;2.6	5.68	2.63	0.31362	von Willebrand factor, type A (3);	0.351400	0.28600	N	0.014762	T	0.14227	0.0344	M	0.67397	2.05	0.09310	N	1	D;D	0.54772	0.968;0.968	P;P	0.62885	0.905;0.908	T	0.04203	-1.0969	10	0.54805	T	0.06	-7.1372	5.6893	0.17821	0.0714:0.267:0.5312:0.1304	.	424;187	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	Q	424;424;137	ENSP00000234701:E424Q;ENSP00000378200:E424Q	ENSP00000234701:E424Q	E	+	1	0	CLCA1	86727354	0.031000	0.19500	0.001000	0.08648	0.104000	0.19210	1.050000	0.30404	0.715000	0.32103	0.655000	0.94253	GAG		0.468	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		15	51	0	0	0	1	0	15	51				
KIFAP3	22920	broad.mit.edu	37	1	170015858	170015858	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:170015858C>G	ENST00000361580.2	-	3	541	c.314G>C	c.(313-315)gGa>gCa	p.G105A	KIFAP3_ENST00000367767.1_Missense_Mutation_p.G61A|KIFAP3_ENST00000367765.1_Missense_Mutation_p.G65A|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	105					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTACCTTTTCCTGACAATGA	0.348																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(193-195)gGa>gCa		kinesin-associated protein 3							131.0	126.0	128.0					1																	170015858		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170015858C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.314G>C	1.37:g.170015858C>G	ENSP00000354560:p.Gly105Ala					KIFAP3_ENST00000361580.2_Missense_Mutation_p.G105A|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.G61A|KIFAP3_ENST00000538366.1_5'UTR	p.G65A	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			3	1695	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		105					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.194G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827408	0.32329	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767	T;T;T	0.46451	0.87;0.87;0.87	5.52	4.58	0.56647	Armadillo-like helical (1);	0.279972	0.40385	N	0.001110	T	0.16599	0.0399	L	0.28608	0.87	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.05131	-1.0904	9	.	.	.	-14.7401	15.2631	0.73640	0.0:0.7341:0.2659:0.0	.	61;105	B1AKU5;Q92845	.;KIFA3_HUMAN	A	105;65;61	ENSP00000354560:G105A;ENSP00000356739:G65A;ENSP00000356741:G61A	.	G	-	2	0	KIFAP3	168282482	0.998000	0.40836	1.000000	0.80357	0.929000	0.56500	2.297000	0.43593	1.424000	0.47217	0.467000	0.42956	GGA		0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		14	112	0	0	0	1	0	14	112				
TTN	7273	broad.mit.edu	37	2	179398781	179398781	+	Silent	SNP	G	G	A	rs375625664		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:179398781G>A	ENST00000591111.1	-	308	97862	c.97638C>T	c.(97636-97638)taC>taT	p.Y32546Y	TTN_ENST00000589042.1_Silent_p.Y34187Y|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Silent_p.Y31619Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.Y25247Y|TTN_ENST00000460472.2_Silent_p.Y25122Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y25314Y|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32546	Ig-like 143.				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)			CTCCATCTTCGTAGGTGATTT	0.398																																						ENST00000589042.1																			0				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						c.(102559-102561)taC>taT		titin		A	,,,	0,3918		0,0,1959	105.0	101.0	102.0		75366,94857,75741,75942	0.0	1.0	2		102	2,8300		0,2,4149	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6108	AA,AG,GG		0.0241,0.0,0.0164	,,,	25122/26927,31619/33424,25247/27052,25314/27119	179398781	2,12218	1959	4151	6110	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398781G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97638C>T	2.37:g.179398781G>A						TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Silent_p.Y32546Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25122Y|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Silent_p.Y25247Y|TTN_ENST00000342992.6_Silent_p.Y31619Y|TTN_ENST00000342175.6_Silent_p.Y25314Y|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA	p.Y34187Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102785	-			32546			Ser-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.102561C>T																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	51	0	0	0	1	0	8	51				
CASP8AP2	9994	broad.mit.edu	37	6	90572878	90572878	+	RNA	SNP	A	A	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:90572878A>T	ENST00000551025.1	+	0	2887									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAAGAAAATAGGCATATTAG	0.333																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							56.0	53.0	54.0					6																	90572878		1819	4074	5893			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572878A>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572878A>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2887	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.333	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	17	0	0	0	1	0	3	17				
SLAMF6	114836	broad.mit.edu	37	1	160456943	160456943	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:160456943C>G	ENST00000368057.3	-	7	962	c.902G>C	c.(901-903)aGa>aCa	p.R301T	SLAMF6_ENST00000368059.3_Missense_Mutation_p.R300T|SLAMF6_ENST00000368055.1_Missense_Mutation_p.R190T			Q96DU3	SLAF6_HUMAN	SLAM family member 6	301						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATCATTTTCTCTAGGTGTCCA	0.353																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(898-900)aGa>aCa		SLAM family member 6							142.0	148.0	146.0					1																	160456943		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160456943C>G	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.902G>C	1.37:g.160456943C>G	ENSP00000357036:p.Arg301Thr					SLAMF6_ENST00000368057.3_Missense_Mutation_p.R301T|SLAMF6_ENST00000368055.1_Missense_Mutation_p.R190T	p.R300T	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		7	968	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		301					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.899G>C	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	c	0.104	-1.148418	0.01714	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.16743	2.95;2.95;2.32	3.71	-7.41	0.01392	.	0.891818	0.09566	N	0.784874	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.41161	-0.9524	10	0.17832	T	0.49	1.1288	3.7226	0.08462	0.182:0.4647:0.2398:0.1135	.	190;251;301;300	Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	T	300;301;190	ENSP00000357038:R300T;ENSP00000357036:R301T;ENSP00000357034:R190T	ENSP00000357034:R190T	R	-	2	0	SLAMF6	158723567	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.731000	0.04909	-2.302000	0.00657	-3.445000	0.00036	AGA		0.353	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		5	37	0	0	0	1	0	5	37				
ANAPC4	29945	broad.mit.edu	37	4	25418140	25418140	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:25418140C>G	ENST00000315368.3	+	27	2137	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	ANAPC4_ENST00000510092.1_Silent_p.L666L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	665					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GAGATAGACTCTTGGTCCAGC	0.368																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(1993-1995)ctC>ctG		anaphase promoting complex subunit 4							119.0	112.0	114.0					4																	25418140		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418140C>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1995C>G	4.37:g.25418140C>G						ANAPC4_ENST00000510092.1_Silent_p.L666L	p.L665L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			27	2137	+		Breast(46;0.0503)	665					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.1995C>G	CCDS3434.1																																																																																				0.368	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		13	55	0	0	0	1	0	13	55				
LRRC31	79782	broad.mit.edu	37	3	169558081	169558081	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:169558081G>T	ENST00000316428.5	-	9	1405	c.1348C>A	c.(1348-1350)Cat>Aat	p.H450N	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.H394N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	450										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTGGCCAGATGACCCGTCTGT	0.473																																						ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1348-1350)Cat>Aat		leucine rich repeat containing 31							82.0	76.0	78.0					3																	169558081		1998	4173	6171	SO:0001583	missense	79782							g.chr3:169558081G>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1348C>A	3.37:g.169558081G>T	ENSP00000325978:p.His450Asn					LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.H394N	p.H450N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1405	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		450					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1348C>A	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508792	0.44660	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.50001	0.76;0.76	4.37	4.37	0.52481	.	0.314836	0.34386	N	0.004017	T	0.62380	0.2423	M	0.75447	2.3	0.80722	D	1	D;P	0.63880	0.993;0.915	D;B	0.63033	0.91;0.366	T	0.60172	-0.7315	10	0.19147	T	0.46	-15.8236	13.1777	0.59637	0.0:0.0:0.8397:0.1603	.	394;450	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	N	450;394	ENSP00000325978:H450N;ENSP00000264676:H394N	ENSP00000264676:H394N	H	-	1	0	LRRC31	171040775	0.983000	0.35010	0.923000	0.36655	0.706000	0.40770	3.505000	0.53356	2.134000	0.65973	0.555000	0.69702	CAT		0.473	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		6	82	1	0	3.59834e-05	1	3.75016e-05	6	82				
KRT74	121391	broad.mit.edu	37	12	52963645	52963645	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:52963645G>T	ENST00000305620.2	-	6	1179	c.1132C>A	c.(1132-1134)Cag>Aag	p.Q378K	KRT74_ENST00000549343.1_Missense_Mutation_p.Q378K	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	378	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCCCACCTGCTTCTTCACA	0.582																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1132-1134)Cag>Aag		keratin 74							104.0	93.0	96.0					12																	52963645		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52963645G>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1132C>A	12.37:g.52963645G>T	ENSP00000307240:p.Gln378Lys					KRT74_ENST00000305620.2_Missense_Mutation_p.Q378K	p.Q378K			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	6	1170	-			378			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1132C>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126848	0.77549	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;T	0.88975	-2.45;-0.91	4.13	4.13	0.48395	Filament (1);	.	.	.	.	D	0.95878	0.8658	M	0.93197	3.39	0.38158	D	0.938961	D	0.76494	0.999	D	0.91635	0.999	D	0.98402	1.0568	9	0.87932	D	0	.	17.2813	0.87129	0.0:0.0:1.0:0.0	.	378	Q7RTS7	K2C74_HUMAN	K	378	ENSP00000447447:Q378K;ENSP00000307240:Q378K	ENSP00000307240:Q378K	Q	-	1	0	KRT74	51249912	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.602000	0.74141	2.237000	0.73441	0.563000	0.77884	CAG		0.582	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		21	86	1	0	7.41877e-09	1	8.07241e-09	21	86				
RCOR1	23186	broad.mit.edu	37	14	103188637	103188637	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:103188637G>A	ENST00000570597.1	+	11	1294	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	RCOR1_ENST00000262241.6_Missense_Mutation_p.E435K			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	432					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CAACATAGATGAAGTTTTACA	0.428																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1303-1305)Gaa>Aaa		REST corepressor 1							122.0	130.0	127.0					14																	103188637		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103188637G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1294G>A	14.37:g.103188637G>A	ENSP00000459789:p.Glu432Lys					RCOR1_ENST00000570597.1_Missense_Mutation_p.E432K	p.E435K	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			11	1529	+			432					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.1303G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.301418	0.81136	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.74	5.74	0.90152	.	0.048126	0.85682	D	0.000000	T	0.53334	0.1790	L	0.61218	1.895	0.80722	D	1	P	0.35433	0.501	B	0.28139	0.086	T	0.55792	-0.8085	9	0.44086	T	0.13	-31.3331	15.4203	0.75006	0.0:0.1384:0.8616:0.0	.	432	Q9UKL0	RCOR1_HUMAN	K	432	.	ENSP00000262241:E432K	E	+	1	0	RCOR1	102258390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.715000	0.92844	0.655000	0.94253	GAA		0.428	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		5	140	0	0	0	1	0	5	140				
LTN1	26046	broad.mit.edu	37	21	30339475	30339475	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:30339475G>C	ENST00000361371.5	-	10	1417	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	LTN1_ENST00000389195.2_Silent_p.L492L|LTN1_ENST00000389194.2_Silent_p.L492L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	446					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGGGTCTTTGAGAACTGCAT	0.388																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1336-1338)ctC>ctG		listerin E3 ubiquitin protein ligase 1							62.0	58.0	59.0					21																	30339475		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30339475G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1338C>G	21.37:g.30339475G>C						LTN1_ENST00000389194.2_Silent_p.L492L|LTN1_ENST00000389195.2_Silent_p.L492L	p.L446L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1488	-			446					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.1338C>G																																																																																					0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		15	56	0	0	0	1	0	15	56				
HUWE1	10075	broad.mit.edu	37	X	53561522	53561522	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrX:53561522C>G	ENST00000342160.3	-	81	13243	c.12786G>C	c.(12784-12786)ctG>ctC	p.L4262L	HUWE1_ENST00000262854.6_Silent_p.L4262L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4262	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTTGGATTTCAGATCATCGA	0.478																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12784-12786)ctG>ctC		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							236.0	172.0	193.0					X																	53561522		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53561522C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12786G>C	X.37:g.53561522C>G						HUWE1_ENST00000262854.6_Silent_p.L4262L	p.L4262L			Q7Z6Z7	HUWE1_HUMAN			81	13243	-			4262			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.12786G>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	5.591	0.293852	0.10567	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.36	4.49	0.54785	.	.	.	.	.	T	0.59211	0.2177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56384	-0.7988	4	.	.	.	.	8.7464	0.34589	0.0:0.8192:0.0:0.1808	.	.	.	.	Q	3296;1085	.	.	E	-	1	0	HUWE1	53578247	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.227000	0.17795	1.157000	0.42530	0.600000	0.82982	GAA		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		10	26	0	0	0	1	0	10	26				
ANO4	121601	broad.mit.edu	37	12	101442128	101442128	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:101442128C>A	ENST00000392977.3	+	14	1471	c.1261C>A	c.(1261-1263)Ctt>Att	p.L421I	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.L386I			Q32M45	ANO4_HUMAN	anoctamin 4	421					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTAACCCACCTTTTTGACAA	0.353										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1156-1158)Ctt>Att		anoctamin 4							129.0	129.0	129.0					12																	101442128		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101442128C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1261C>A	12.37:g.101442128C>A	ENSP00000376703:p.Leu421Ile	HNSCC(74;0.22)				ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.L421I	p.L386I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			13	1517	+			421					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1156C>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.301726	0.81136	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.64991	-0.13;-0.13	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	T	0.76154	0.3948	L	0.56340	1.77	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.87578	0.976;0.998	T	0.73811	-0.3865	10	0.38643	T	0.18	.	19.1795	0.93617	0.0:1.0:0.0:0.0	.	421;386	Q32M45;Q32M45-2	ANO4_HUMAN;.	I	386;421	ENSP00000376705:L386I;ENSP00000376703:L421I	ENSP00000376703:L421I	L	+	1	0	ANO4	99966259	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.615000	0.88500	0.555000	0.69702	CTT		0.353	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		9	86	1	0	1.58986e-06	1	1.69631e-06	9	86				
CNOT3	4849	broad.mit.edu	37	19	54656227	54656227	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:54656227G>C	ENST00000406403.1	+	14	3371	c.1768G>C	c.(1768-1770)Gag>Cag	p.E590Q	CNOT3_ENST00000221232.5_Missense_Mutation_p.E590Q|CNOT3_ENST00000358389.3_Missense_Mutation_p.E409Q|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	590	Pro-rich.				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)					GCAGCTGTCAGAGGTGAACAT	0.652																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1768-1770)Gag>Cag		CCR4-NOT transcription complex, subunit 3							81.0	88.0	86.0					19																	54656227		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.chr19:54656227G>C	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.1768G>C	19.37:g.54656227G>C	ENSP00000383954:p.Glu590Gln					CNOT3_ENST00000358389.3_Missense_Mutation_p.E409Q|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E590Q	p.E590Q			O75175	CNOT3_HUMAN			14	3371	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		590			Pro-rich.		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.1768G>C	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.413329|4.413329	0.83449|0.83449	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000457463	T;T|.	0.52057|.	0.68;0.68|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	0.139394|.	0.49305|.	D|.	0.000151|.	T|T	0.72104|0.72104	0.3419|0.3419	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.993;0.996;0.993;0.998|.	D;P;D;D|.	0.78314|.	0.979;0.895;0.968;0.991|.	T|T	0.72906|0.72906	-0.4150|-0.4150	10|5	0.23302|.	T|.	0.38|.	-32.9295|-32.9295	15.8235|15.8235	0.78678|0.78678	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	590;409;590;514|.	B7Z6J7;O75175-3;O75175;Q6ZMJ6|.	.;.;CNOT3_HUMAN;.|.	Q|T	590;409;590|121	ENSP00000221232:E590Q;ENSP00000383954:E590Q|.	ENSP00000221232:E590Q|.	E|R	+|+	1|2	0|0	CNOT3|CNOT3	59348039|59348039	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.984000|0.984000	0.73092|0.73092	6.907000|6.907000	0.75724|0.75724	2.079000|2.079000	0.62486|0.62486	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.652	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		5	106	0	0	0	1	0	5	106				
MYO5C	55930	broad.mit.edu	37	15	52487605	52487605	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:52487605C>G	ENST00000261839.7	-	40	5206	c.5045G>C	c.(5044-5046)aGa>aCa	p.R1682T	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1682	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGGAGTCACTCTCTTCTCAAA	0.343																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5044-5046)aGa>aCa		myosin VC							88.0	87.0	87.0					15																	52487605		1865	4080	5945	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52487605C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.5045G>C	15.37:g.52487605C>G	ENSP00000261839:p.Arg1682Thr					RP11-430B1.2_ENST00000560518.1_lincRNA	p.R1682T	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	40	5206	-			1682			Dilute.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.5045G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022713	0.93462	.	.	ENSG00000128833	ENST00000261839	D	0.89343	-2.5	5.62	5.62	0.85841	Dilute (1);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.70595	2.14	0.80722	D	1	P	0.50066	0.931	P	0.52031	0.688	D	0.90667	0.4595	10	0.35671	T	0.21	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	1682	Q9NQX4	MYO5C_HUMAN	T	1682	ENSP00000261839:R1682T	ENSP00000261839:R1682T	R	-	2	0	MYO5C	50274897	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	AGA		0.343	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		9	40	0	0	0	1	0	9	40				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	43	0	0	0	1	0	4	43				
PCDHA9	9752	broad.mit.edu	37	5	140229690	140229690	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140229690C>A	ENST00000532602.1	+	1	2643	c.1610C>A	c.(1609-1611)gCg>gAg	p.A537E	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A537E|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1609-1611)gCg>gAg									59.0	67.0	64.0					5																	140229690		2195	4270	6465	SO:0001583	missense	9752							g.chr5:140229690C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1610C>A	5.37:g.140229690C>A	ENSP00000436042:p.Ala537Glu					PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A537E	p.A537E	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2334	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1610C>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471320	0.84533	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.75938	-0.98;-0.98	3.56	3.56	0.40772	Cadherin (5);Cadherin-like (1);	0.288789	0.17558	U	0.169928	D	0.91429	0.7295	H	0.98577	4.27	0.46113	D	0.998872	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94583	0.7781	10	0.87932	D	0	.	15.3609	0.74472	0.0:1.0:0.0:0.0	.	537;537	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	E	537	ENSP00000436042:A537E;ENSP00000367362:A537E	ENSP00000367362:A537E	A	+	2	0	PCDHA9	140209874	0.996000	0.38824	1.000000	0.80357	0.794000	0.44872	2.733000	0.47360	1.973000	0.57446	0.306000	0.20318	GCG		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		47	200	1	0	3.10996e-30	1	3.50758e-30	47	200				
LRRC73	221424	broad.mit.edu	37	6	43474988	43474988	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:43474988C>T	ENST00000372441.1	-	6	1839	c.939G>A	c.(937-939)gaG>gaA	p.E313E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	313																	ACATCTCGGTCTCAGCCAACA	0.552											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372441.1																			0											c.(937-939)gaG>gaA		leucine rich repeat containing 73							194.0	154.0	167.0					6																	43474988		2202	4300	6502	SO:0001819	synonymous_variant	221424							g.chr6:43474988C>T		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.939G>A	6.37:g.43474988C>T			OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916		p.E313E	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			6	1839	-			313						Silent	SNP	ENST00000372441.1	37	c.939G>A	CCDS34456.1																																																																																				0.552	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		5	35	0	0	0	1	0	5	35				
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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)	ENST00000420246.2		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"""		68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(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						c.e5+1	Other conserved DNA damage response genes	tumor protein p53							48.0	46.0	47.0					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578370C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>T	17.37:g.7578370C>A		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_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	38	49	1	0	2.87052e-16	1	3.19378e-16	38	49				
MED16	10025	broad.mit.edu	37	19	877178	877178	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:877178C>T	ENST00000589119.1	-	8	1355	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	MED16_ENST00000269814.4_Silent_p.L452L|MED16_ENST00000325464.1_Silent_p.L452L|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Silent_p.L452L|MED16_ENST00000395808.3_Silent_p.L452L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	452					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GGAGCACGCTCAGCTGCCAGA	0.687																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1354-1356)ctG>ctA		mediator complex subunit 16							18.0	18.0	18.0					19																	877178		2183	4285	6468	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:877178C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1356G>A	19.37:g.877178C>T						MED16_ENST00000395808.3_Silent_p.L452L|MED16_ENST00000589119.1_Silent_p.L452L|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Silent_p.L452L|MED16_ENST00000269814.4_Silent_p.L452L	p.L452L			Q9Y2X0	MED16_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)	9	1506	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	452					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1356G>A	CCDS12047.1																																																																																				0.687	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		4	17	0	0	0	1	0	4	17				
ZNHIT1	10467	broad.mit.edu	37	7	100867009	100867009	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:100867009C>T	ENST00000305105.2	+	4	857	c.329C>T	c.(328-330)tCg>tTg	p.S110L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	110	Interaction with NR1D2.				negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GGACCCCCATCGCGGCCCCAG	0.667																																						ENST00000305105.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11						c.(328-330)tCg>tTg		zinc finger, HIT-type containing 1							50.0	55.0	53.0					7																	100867009		2203	4300	6503	SO:0001583	missense	10467						metal ion binding|protein binding	g.chr7:100867009C>T	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.329C>T	7.37:g.100867009C>T	ENSP00000304593:p.Ser110Leu					ZNHIT1_ENST00000492315.1_3'UTR	p.S110L	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN			4	857	+	Lung NSC(181;0.168)|all_lung(186;0.215)		110					Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	c.329C>T	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191930	0.38707	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.26	4.35	0.52113	.	0.656003	0.14175	N	0.336432	T	0.21631	0.0521	N	0.03608	-0.345	0.23010	N	0.99843	B	0.02656	0.0	B	0.04013	0.001	T	0.08186	-1.0734	9	0.27785	T	0.31	-24.1759	13.0238	0.58804	0.1613:0.8387:0.0:0.0	.	110	O43257	ZNHI1_HUMAN	L	110	.	ENSP00000304593:S110L	S	+	2	0	ZNHIT1	100653729	0.012000	0.17670	0.382000	0.26119	0.927000	0.56198	1.565000	0.36386	2.475000	0.83589	0.549000	0.68633	TCG		0.667	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		10	79	0	0	0	1	0	10	79				
SLC12A7	10723	broad.mit.edu	37	5	1065456	1065456	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:1065456C>G	ENST00000264930.5	-	18	2422	c.2379G>C	c.(2377-2379)atG>atC	p.M793I	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	793					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGGGCCAGGCCATGAGCACCG	0.657																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2377-2379)atG>atC		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						66.0	66.0	66.0					5																	1065456		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065456C>G	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2379G>C	5.37:g.1065456C>G	ENSP00000264930:p.Met793Ile						p.M793I	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2422	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		793					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2379G>C	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.21|14.21	2.467123|2.467123	0.43839|0.43839	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.91686	.|-2.89	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.085770	.|0.85682	.|D	.|0.000000	D|D	0.87881|0.87881	0.6289|0.6289	L|L	0.41124|0.41124	1.26|1.26	0.58432|0.58432	D|D	0.999997|0.999997	.|B	.|0.14805	.|0.011	.|B	.|0.14578	.|0.011	D|D	0.83822|0.83822	0.0247|0.0247	5|10	.|0.22109	.|T	.|0.4	.|.	15.7172|15.7172	0.77677|0.77677	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|793	.|Q9Y666	.|S12A7_HUMAN	R|I	151|793	.|ENSP00000264930:M793I	.|ENSP00000264930:M793I	G|M	-|-	1|3	0|0	SLC12A7|SLC12A7	1118456|1118456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	5.120000|5.120000	0.64685|0.64685	2.055000|2.055000	0.61198|0.61198	0.467000|0.467000	0.42956|0.42956	GGC|ATG		0.657	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	89	0	0	0	1	0	5	89				
FLG	2312	broad.mit.edu	37	1	152284408	152284408	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:152284408G>C	ENST00000368799.1	-	3	2989	c.2954C>G	c.(2953-2955)cCc>cGc	p.P985R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	985	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCTGGGGTGTCTGGA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2953-2955)cCc>cGc		filaggrin							234.0	235.0	234.0					1																	152284408		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284408G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2954C>G	1.37:g.152284408G>C	ENSP00000357789:p.Pro985Arg					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.P985R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2989	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		985			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2954C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.498	-0.315904	0.05422	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01647	4.71	2.4	-3.26	0.05064	.	.	.	.	.	T	0.00440	0.0014	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47623	-0.9103	9	0.20046	T	0.44	.	0.4562	0.00509	0.276:0.1916:0.3381:0.1942	.	985	P20930	FILA_HUMAN	R	985;192	ENSP00000357789:P985R	ENSP00000357789:P985R	P	-	2	0	FLG	150551032	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.605000	0.05661	-0.539000	0.06273	-0.909000	0.02823	CCC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		60	392	0	0	0	1	0	60	392				
LRP1	4035	broad.mit.edu	37	12	57550564	57550564	+	Silent	SNP	G	G	A	rs138294603		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:57550564G>A	ENST00000243077.3	+	10	1888	c.1422G>A	c.(1420-1422)agG>agA	p.R474R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	474	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCAGTGAGGAGCCATGCCT	0.627																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1420-1422)agG>agA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	G		1,4405	2.1+/-5.4	0,1,2202	41.0	38.0	39.0		1422	3.3	1.0	12	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		474/4545	57550564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57550564G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1422G>A	12.37:g.57550564G>A							p.R474R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	10	1888	+			474			EGF-like 3.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1422G>A	CCDS8932.1																																																																																				0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	20	0	0	0	1	0	7	20				
ZNF727	442319	broad.mit.edu	37	7	63538695	63538695	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:63538695C>G	ENST00000550760.3	+	4	1447	c.1268C>G	c.(1267-1269)cCt>cGt	p.P423R	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GAAGTGAGACCTTACAAATGT	0.398																																						ENST00000550760.3																			0				endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(1267-1269)cCt>cGt		zinc finger protein 727							32.0	30.0	30.0					7																	63538695		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538695C>G			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1268C>G	7.37:g.63538695C>G	ENSP00000447987:p.Pro423Arg						p.P423R	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN			4	1447	+			423						Missense_Mutation	SNP	ENST00000550760.3	37	c.1268C>G	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000461	0.19121	.	.	ENSG00000257482	ENST00000550760	T	0.27890	1.64	0.926	0.926	0.19430	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40743	0.1129	L	0.47016	1.485	0.22996	N	0.998452	D	0.67145	0.996	D	0.64595	0.927	T	0.15896	-1.0421	8	.	.	.	.	7.382	0.26862	0.0:1.0:0.0:0.0	.	423	A8MUV8	ZN727_HUMAN	R	423	ENSP00000447987:P423R	.	P	+	2	0	ZNF727	63176130	0.065000	0.20965	0.160000	0.22671	0.141000	0.21300	2.013000	0.40942	0.420000	0.25954	0.420000	0.28162	CCT		0.398	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522		11	16	0	0	0	1	0	11	16				
ZHX3	23051	broad.mit.edu	37	20	39832858	39832858	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:39832858G>A	ENST00000309060.3	-	4	1114	c.699C>T	c.(697-699)atC>atT	p.I233I	ZHX3_ENST00000540170.1_Silent_p.I233I|ZHX3_ENST00000559234.1_Silent_p.I233I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.I233I|ZHX3_ENST00000432768.2_Silent_p.I233I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Silent_p.I233I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	233					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTGCCCCATTGATGAAGGAAT	0.562																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(697-699)atC>atT		zinc fingers and homeoboxes 3							112.0	102.0	106.0					20																	39832858		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832858G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.699C>T	20.37:g.39832858G>A						ZHX3_ENST00000432768.2_Silent_p.I233I|ZHX3_ENST00000560361.1_Silent_p.I233I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.I233I|ZHX3_ENST00000544979.2_Silent_p.I233I|ZHX3_ENST00000559234.1_Silent_p.I233I|ZHX3_ENST00000557816.1_Intron	p.I233I			Q9H4I2	ZHX3_HUMAN			4	1114	-		Myeloproliferative disorder(115;0.00425)	233					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.699C>T	CCDS13315.1																																																																																				0.562	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		21	114	0	0	0	1	0	21	114				
ECSIT	51295	broad.mit.edu	37	19	11624710	11624710	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:11624710G>A	ENST00000270517.7	-	3	558	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.F141F|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Silent_p.F141F|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000592312.1_Silent_p.F25F	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	141					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGCGAGGCCGGAAGACCTCCT	0.592																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(421-423)ttC>ttT		ECSIT signalling integrator							126.0	93.0	104.0					19																	11624710		2203	4300	6503	SO:0001819	synonymous_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624710G>A	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.423C>T	19.37:g.11624710G>A						ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Silent_p.F141F|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Silent_p.F25F|ECSIT_ENST00000591104.1_Silent_p.F141F	p.F141F	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	558	-			141					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	c.423C>T	CCDS12262.1																																																																																				0.592	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		23	40	0	0	0	1	0	23	40				
SYNE1	23345	broad.mit.edu	37	6	152614805	152614805	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:152614805G>A	ENST00000367255.5	-	95	18531	c.17930C>T	c.(17929-17931)aCg>aTg	p.T5977M	SYNE1_ENST00000341594.5_Missense_Mutation_p.T5589M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T501M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5977M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5906M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5906M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5977					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)		CTCCATCTTCGTAGAGATGGA	0.507										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(17929-17931)aCg>aTg		spectrin repeat containing, nuclear envelope 1							115.0	108.0	110.0					6																	152614805		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152614805G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17930C>T	6.37:g.152614805G>A	ENSP00000356224:p.Thr5977Met	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.T5906M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5906M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T501M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5977M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5589M	p.T5977M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	95	18531	-		Ovarian(120;0.0955)	5977					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17930C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027253	0.75390	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663	T;T;T;T;T;T;T	0.42513	1.3;1.3;1.3;1.3;1.3;0.97;1.3	5.37	5.37	0.77165	.	0.117734	0.37761	N	0.001954	T	0.56877	0.2015	M	0.62723	1.935	0.38120	D	0.937826	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.74348	0.879;0.961;0.961;0.983	T	0.60662	-0.7219	10	0.66056	D	0.02	.	19.1163	0.93343	0.0:0.0:1.0:0.0	.	392;5977;5977;5906	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	5977;5906;5977;5906;5589;501;152	ENSP00000356224:T5977M;ENSP00000396024:T5906M;ENSP00000265368:T5977M;ENSP00000390975:T5906M;ENSP00000341887:T5589M;ENSP00000349276:T501M;ENSP00000437411:T152M	ENSP00000265368:T5977M	T	-	2	0	SYNE1	152656498	0.997000	0.39634	0.140000	0.22221	0.940000	0.58332	6.237000	0.72345	2.488000	0.83962	0.655000	0.94253	ACG		0.507	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	49	0	0	0	1	0	14	49				
KLC1	3831	broad.mit.edu	37	14	104123904	104123904	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:104123904C>A	ENST00000348520.6	+	3	602	c.283C>A	c.(283-285)Cac>Aac	p.H95N	KLC1_ENST00000445352.4_Missense_Mutation_p.H95N|KLC1_ENST00000389744.4_Missense_Mutation_p.H95N|KLC1_ENST00000246489.7_Missense_Mutation_p.H95N|KLC1_ENST00000555836.1_Missense_Mutation_p.H95N|KLC1_ENST00000557450.1_Missense_Mutation_p.H95N|KLC1_ENST00000334553.6_Missense_Mutation_p.H95N|KLC1_ENST00000347839.6_Missense_Mutation_p.H95N|KLC1_ENST00000553286.1_Missense_Mutation_p.H95N|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.H267N|KLC1_ENST00000557575.1_Missense_Mutation_p.H95N|KLC1_ENST00000452929.2_Missense_Mutation_p.H95N|KLC1_ENST00000554280.1_Missense_Mutation_p.H95N|KLC1_ENST00000380038.3_Missense_Mutation_p.H95N	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	95					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTTGTCAAATCACCTGAATGC	0.552																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(283-285)Cac>Aac		kinesin light chain 1							103.0	77.0	86.0					14																	104123904		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104123904C>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.283C>A	14.37:g.104123904C>A	ENSP00000341154:p.His95Asn					KLC1_ENST00000554280.1_Missense_Mutation_p.H95N|KLC1_ENST00000380038.3_Missense_Mutation_p.H95N|KLC1_ENST00000557575.1_Missense_Mutation_p.H95N|KLC1_ENST00000553286.1_Missense_Mutation_p.H95N|KLC1_ENST00000555836.1_Missense_Mutation_p.H95N|KLC1_ENST00000452929.2_Missense_Mutation_p.H95N|KLC1_ENST00000347839.6_Missense_Mutation_p.H95N|KLC1_ENST00000334553.6_Missense_Mutation_p.H95N|KLC1_ENST00000445352.4_Missense_Mutation_p.H95N|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.H267N|KLC1_ENST00000348520.6_Missense_Mutation_p.H95N|KLC1_ENST00000246489.7_Missense_Mutation_p.H95N|KLC1_ENST00000557450.1_Missense_Mutation_p.H95N	p.H95N			Q07866	KLC1_HUMAN			3	552	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	95					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.283C>A	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179548	0.94846	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.992;0.969;1.0	D;D;D;D;D	0.83275	0.996;0.974;0.969;0.968;0.972	T	0.68857	-0.5298	10	0.33940	T	0.23	-22.5808	19.7433	0.96241	0.0:1.0:0.0:0.0	.	95;95;267;95;95	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	N	95;95;95;95;95;95;95;95;95;95;95;95;95;95;95;267	ENSP00000450786:H95N;ENSP00000341154:H95N;ENSP00000369377:H95N;ENSP00000374394:H95N;ENSP00000450617:H95N;ENSP00000452487:H95N;ENSP00000334618:H95N;ENSP00000452481:H95N;ENSP00000334523:H95N;ENSP00000246489:H95N;ENSP00000450648:H95N;ENSP00000451242:H95N;ENSP00000414982:H95N;ENSP00000412693:H95N;ENSP00000439065:H267N	ENSP00000246489:H95N	H	+	1	0	KLC1;RP11-73M18.2	103193657	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.436000	0.80404	2.733000	0.93635	0.655000	0.94253	CAC		0.552	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		6	51	1	0	8.12818e-05	1	8.41787e-05	6	51				
LRRC8E	80131	broad.mit.edu	37	19	7964750	7964750	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:7964750G>A	ENST00000306708.6	+	3	1444	c.1343G>A	c.(1342-1344)tGc>tAc	p.C448Y	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_Nonsense_Mutation_p.Q173*	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	448					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GAGGCCATCTGCGATATCACC	0.657																																						ENST00000539278.1																			0											c.(517-519)Cag>Tag									39.0	30.0	33.0					19																	7964750		2203	4299	6502	SO:0001583	missense	80131							g.chr19:7964750G>A		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1343G>A	19.37:g.7964750G>A	ENSP00000306524:p.Cys448Tyr					LRRC8E_ENST00000306708.6_Missense_Mutation_p.C448Y	p.Q173*							1	3677	-								B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Nonsense_Mutation	SNP	ENST00000306708.6	37	c.517C>T	CCDS12189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	56|56	25.541298|25.541298	0.99965|0.99965	.|.	.|.	ENSG00000171017|ENSG00000214248	ENST00000306708|ENST00000539278	T|.	0.16743|.	2.32|.	4.64|4.64	3.59|3.59	0.41128|0.41128	.|.	0.376195|.	0.29040|.	N|.	0.013338|.	T|.	0.26521|.	0.0648|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.17667|.	0.023|.	B|.	0.24006|.	0.05|.	T|.	0.19063|.	-1.0317|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	6.2897|6.2897	0.21053|0.21053	0.0985:0.1897:0.7118:0.0|0.0985:0.1897:0.7118:0.0	.|.	448|.	Q6NSJ5|.	LRC8E_HUMAN|.	Y|X	448|173	ENSP00000306524:C448Y|.	ENSP00000306524:C448Y|ENSP00000441047:Q173X	C|Q	+|-	2|1	0|0	LRRC8E|AC010336.2	7870750|7870750	0.203000|0.203000	0.23435|0.23435	0.074000|0.074000	0.20217|0.20217	0.880000|0.880000	0.50808|0.50808	3.556000|3.556000	0.53734|0.53734	1.156000|1.156000	0.42514|0.42514	0.555000|0.555000	0.69702|0.69702	TGC|CAG		0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		4	34	0	0	0	1	0	4	34				
C1orf127	148345	broad.mit.edu	37	1	11008255	11008255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:11008255G>C	ENST00000377008.4	-	11	1882	c.1436C>G	c.(1435-1437)tCa>tGa	p.S479*	C1orf127_ENST00000377004.4_Nonsense_Mutation_p.S646*			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	479										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCTTGGTTCTGAGGATGAAAG	0.652																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(1936-1938)tCa>tGa		chromosome 1 open reading frame 127							49.0	56.0	54.0					1																	11008255		2203	4300	6503	SO:0001587	stop_gained	148345							g.chr1:11008255G>C	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1436C>G	1.37:g.11008255G>C	ENSP00000366207:p.Ser479*					C1orf127_ENST00000377008.4_Nonsense_Mutation_p.S479*	p.S646*	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	1936	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	497					A0AVG8|A6NKM7|Q5VXJ2	Nonsense_Mutation	SNP	ENST00000377008.4	37	c.1937C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.407505|4.407505	0.83340|0.83340	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|.	.|.	.|.	3.94|3.94	2.05|2.05	0.26809|0.26809	.|.	.|1.084290	.|0.07319	.|N	.|0.877190	T|.	0.32436|.	0.0829|.	.|.	.|.	.|.	0.58432|0.58432	A|A	0.99999|0.99999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39901|.	-0.9591|.	3|.	.|0.29301	.|T	.|0.29	1.2951|1.2951	5.4874|5.4874	0.16757|0.16757	0.1097:0.2041:0.6862:0.0|0.1097:0.2041:0.6862:0.0	.|.	.|.	.|.	.|.	E|X	481;598|646;479	.|.	.|ENSP00000366203:S646X	Q|S	-|-	1|2	0|0	C1orf127|C1orf127	10930842|10930842	0.100000|0.100000	0.21855|0.21855	0.001000|0.001000	0.08648|0.08648	0.068000|0.068000	0.16541|0.16541	1.448000|1.448000	0.35112|0.35112	0.625000|0.625000	0.30304|0.30304	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.652	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		15	75	0	0	0	1	0	15	75				
ANXA13	312	broad.mit.edu	37	8	124693544	124693544	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:124693544G>C	ENST00000419625.1	-	11	959	c.887C>G	c.(886-888)tCt>tGt	p.S296C	ANXA13_ENST00000262219.6_Missense_Mutation_p.S337C	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	296					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AACCATGTCAGAGAGAGACTT	0.488																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(1009-1011)tCt>tGt		annexin A13							209.0	217.0	214.0					8																	124693544		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693544G>C	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.887C>G	8.37:g.124693544G>C	ENSP00000390809:p.Ser296Cys					ANXA13_ENST00000419625.1_Missense_Mutation_p.S296C	p.S337C	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1077	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		296					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.1010C>G	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541732	0.65198	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.03413	3.94;3.94	5.71	4.8	0.61643	Annexin repeat, conserved site (1);	0.606529	0.18583	N	0.136962	T	0.06234	0.0161	L	0.27053	0.805	0.26360	N	0.977061	D;D	0.63880	0.99;0.993	P;P	0.57425	0.82;0.796	T	0.35574	-0.9783	10	0.38643	T	0.18	.	7.5643	0.27870	0.0837:0.0:0.751:0.1653	.	296;337	P27216;P27216-2	ANX13_HUMAN;.	C	337;296	ENSP00000262219:S337C;ENSP00000390809:S296C	ENSP00000262219:S337C	S	-	2	0	ANXA13	124762725	0.001000	0.12720	1.000000	0.80357	0.976000	0.68499	0.515000	0.22801	2.688000	0.91661	0.655000	0.94253	TCT		0.488	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		29	270	0	0	0	1	0	29	270				
EPPK1	83481	broad.mit.edu	37	8	144940192	144940192	+	Silent	SNP	C	C	T	rs6982684		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:144940192C>T	ENST00000525985.1	-	2	7301	c.7230G>A	c.(7228-7230)acG>acA	p.T2410T				P58107	EPIPL_HUMAN	epiplakin 1	2410						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGGAGCCCCGTCTCAGGGT	0.577																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7228-7230)acG>acA		epiplakin 1							36.0	38.0	37.0					8																	144940192		1916	4127	6043	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940192C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7230G>A	8.37:g.144940192C>T							p.T2410T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7301	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2410					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7230G>A																																																																																					0.577	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	44	0	0	0	1	0	6	44				
MAPK8IP3	23162	broad.mit.edu	37	16	1818085	1818085	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:1818085G>A	ENST00000250894.4	+	29	3693	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1173Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1179					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GTCCTGCACCGAGGCCAGCTC	0.677																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3535-3537)cGa>cAa		mitogen-activated protein kinase 8 interacting protein 3							48.0	56.0	53.0					16																	1818085		2107	4235	6342	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1818085G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3536G>A	16.37:g.1818085G>A	ENSP00000250894:p.Arg1179Gln					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1173Q	p.R1179Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			29	3693	+			1179					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3536G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552593	0.27739	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.28895	1.59;1.59	3.39	2.39	0.29439	WD40 repeat-like-containing domain (1);	0.112718	0.37906	N	0.001895	T	0.15176	0.0366	N	0.02011	-0.69	0.50313	D	0.999869	B;B;D	0.65815	0.109;0.39;0.995	B;B;P	0.49829	0.005;0.049;0.623	T	0.06303	-1.0834	10	0.25106	T	0.35	-4.4025	10.5461	0.45060	0.1009:0.0:0.8991:0.0	.	1180;1173;1179	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	1179;1173	ENSP00000250894:R1179Q;ENSP00000348290:R1173Q	ENSP00000250894:R1179Q	R	+	2	0	MAPK8IP3	1758086	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.316000	0.65815	1.733000	0.51620	0.462000	0.41574	CGA		0.677	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		14	81	0	0	0	1	0	14	81				
DSCAML1	57453	broad.mit.edu	37	11	117392001	117392001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:117392001C>A	ENST00000321322.6	-	6	1238	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E143*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	353	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACCAGCTCCGTGTTGCGA	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1237-1239)Gag>Tag		Down syndrome cell adhesion molecule like 1							100.0	84.0	89.0					11																	117392001		2201	4296	6497	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392001C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1237G>T	11.37:g.117392001C>A	ENSP00000315465:p.Glu413*					DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E143*	p.E413*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1238	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	353			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.1237G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633509	0.96682	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	17.7518	0.88436	0.0:1.0:0.0:0.0	.	.	.	.	X	143;413;120	.	ENSP00000315465:E413X	E	-	1	0	DSCAML1	116897211	1.000000	0.71417	0.937000	0.37676	0.943000	0.58893	4.739000	0.62080	2.417000	0.82017	0.609000	0.83330	GAG		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		21	59	1	0	9.95505e-16	1	1.10512e-15	21	59				
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3544-3546)Cgg>Tgg		immunoglobulin superfamily, member 9B							27.0	33.0	31.0					11																	133790076		1865	4082	5947	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790076G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3544C>T	11.37:g.133790076G>A	ENSP00000317980:p.Arg1182Trp					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W	p.R1182W			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3774	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1182			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3544C>T		.	.	.	.	.	.	.	.	.	.	G	18.54	3.645767	0.67358	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76839	-0.76;-1.05	5.08	5.08	0.68730	.	0.000000	0.40728	N	0.001026	T	0.80417	0.4619	L	0.27053	0.805	0.45205	D	0.998212	D	0.89917	1.0	D	0.75020	0.985	T	0.82657	-0.0349	10	0.87932	D	0	.	13.0892	0.59158	0.0:0.0:0.8392:0.1608	.	1182	Q9UPX0	TUTLB_HUMAN	W	1182;1024	ENSP00000317980:R1182W;ENSP00000436552:R1024W	ENSP00000317980:R1182W	R	-	1	2	IGSF9B	133295286	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.687000	0.68219	2.358000	0.79984	0.455000	0.32223	CGG		0.716	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	49	0	0	0	1	0	4	49				
SMOX	54498	broad.mit.edu	37	20	4164241	4164241	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:4164241C>T	ENST00000305958.4	+	6	1695	c.1470C>T	c.(1468-1470)agC>agT	p.S490S	SMOX_ENST00000278795.3_Silent_p.S437S|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Silent_p.S490S|SMOX_ENST00000339123.6_Silent_p.S437S	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	490					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGGGCTCCAGCGGGGCGGATG	0.622																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1468-1470)agC>agT		spermine oxidase	Spermine(DB00127)						46.0	51.0	50.0					20																	4164241		2203	4300	6503	SO:0001819	synonymous_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4164241C>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1470C>T	20.37:g.4164241C>T						SMOX_ENST00000379460.2_Silent_p.S490S|SMOX_ENST00000339123.6_Silent_p.S437S|SMOX_ENST00000278795.3_Silent_p.S437S|SMOX_ENST00000346595.2_Intron	p.S490S	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			6	1695	+			490					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	37	c.1470C>T	CCDS13075.1																																																																																				0.622	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		11	63	0	0	0	1	0	11	63				
DNAJC2	27000	broad.mit.edu	37	7	102953441	102953441	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:102953441C>T	ENST00000379263.3	-	16	1994	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	DNAJC2_ENST00000249270.7_Missense_Mutation_p.E529K|PMPCB_ENST00000249269.4_3'UTR|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	582	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GGCACCGCTTCTGCTATTTTT	0.408																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1744-1746)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily C, member 2							271.0	252.0	258.0					7																	102953441		1859	4093	5952	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953441C>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1744G>A	7.37:g.102953441C>T	ENSP00000368565:p.Glu582Lys					DNAJC2_ENST00000249270.7_Missense_Mutation_p.E529K|PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000249269.4_3'UTR	p.E582K	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			16	1994	-			582			SANT 2.		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.1744G>A	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877754	0.51801	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	T;T	0.39787	1.06;1.06	5.18	4.25	0.50352	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.263809	0.42420	D	0.000707	T	0.25044	0.0608	N	0.16567	0.415	0.80722	D	1	B;B	0.27910	0.034;0.193	B;B	0.24701	0.053;0.055	T	0.05886	-1.0858	10	0.07644	T	0.81	-21.3631	15.6338	0.76933	0.1374:0.8626:0.0:0.0	.	529;582	Q99543-2;Q99543	.;DNJC2_HUMAN	K	529;582	ENSP00000249270:E529K;ENSP00000368565:E582K	ENSP00000249270:E529K	E	-	1	0	DNAJC2	102740677	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.443000	0.59994	2.573000	0.86826	0.655000	0.94253	GAA		0.408	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			28	136	0	0	0	1	0	28	136				
KIAA2022	340533	broad.mit.edu	37	X	73963269	73963269	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrX:73963269C>G	ENST00000055682.6	-	3	1734	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTATCTTCCTCCCCCCAGATG	0.473																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1123-1125)Gag>Cag		KIAA2022							125.0	113.0	117.0					X																	73963269		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963269C>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1123G>C	X.37:g.73963269C>G	ENSP00000055682:p.Glu375Gln					KIAA2022_ENST00000055682.5_Missense_Mutation_p.E375Q	p.E375Q			Q5QGS0	K2022_HUMAN			3	1774	-			375					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1123G>C	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296583	0.23650	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33654	1.4;1.4	6.03	5.17	0.71159	.	0.523497	0.21093	N	0.080288	T	0.25754	0.0627	N	0.22421	0.69	0.35458	D	0.796238	P	0.39480	0.675	B	0.37091	0.241	T	0.25363	-1.0134	10	0.25751	T	0.34	-8.4934	14.1483	0.65364	0.0:0.926:0.0:0.074	.	375	Q5QGS0	K2022_HUMAN	Q	375	ENSP00000362567:E375Q;ENSP00000055682:E375Q	ENSP00000055682:E375Q	E	-	1	0	KIAA2022	73879994	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	4.801000	0.62532	1.309000	0.44985	0.600000	0.82982	GAG		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		19	57	0	0	0	1	0	19	57				
ZNF85	7639	broad.mit.edu	37	19	21116874	21116874	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:21116874G>T	ENST00000328178.8	+	2	161	c.48G>T	c.(46-48)aaG>aaT	p.K16N	ZNF85_ENST00000596476.1_5'UTR|ZNF85_ENST00000300540.3_Missense_Mutation_p.K16N|ZNF85_ENST00000601023.1_5'Flank|ZNF85_ENST00000345030.6_Missense_Mutation_p.K16N|ZNF85_ENST00000597314.1_Missense_Mutation_p.K16N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCTCTCTGAAGGAGTGGCAAT	0.433																																						ENST00000328178.8																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(46-48)aaG>aaT		zinc finger protein 85							164.0	179.0	174.0					19																	21116874		1511	2709	4220	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21116874G>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.48G>T	19.37:g.21116874G>T	ENSP00000329793:p.Lys16Asn					ZNF85_ENST00000345030.6_Missense_Mutation_p.K16N|ZNF85_ENST00000300540.3_Missense_Mutation_p.K16N|ZNF85_ENST00000596476.1_5'UTR|ZNF85_ENST00000597314.1_Missense_Mutation_p.K16N	p.K16N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN			2	161	+			16			KRAB.		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.48G>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	0.211	-1.036836	0.02013	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000300540	T;T;T	0.01767	4.65;4.65;4.65	1.05	-1.83	0.07833	Krueppel-associated box (4);	.	.	.	.	T	0.01940	0.0061	L	0.27053	0.805	0.09310	N	1	P	0.41080	0.737	P	0.45971	0.499	T	0.45175	-0.9279	9	0.87932	D	0	.	3.8772	0.09062	0.5876:0.0:0.4124:0.0	.	16	Q03923	ZNF85_HUMAN	N	16	ENSP00000329793:K16N;ENSP00000342340:K16N;ENSP00000300540:K16N	ENSP00000300540:K16N	K	+	3	2	ZNF85	20908714	0.165000	0.22948	0.024000	0.17045	0.023000	0.10783	-0.554000	0.06006	-0.370000	0.08016	-0.369000	0.07265	AAG		0.433	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		28	165	1	0	1.77063e-15	1	1.96119e-15	28	165				
STK19	8859	broad.mit.edu	37	6	31939957	31939957	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:31939957G>C	ENST00000375333.2	+	1	237	c.184G>C	c.(184-186)Ggc>Cgc	p.G62R	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Missense_Mutation_p.G62R	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	62					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCCAATCCGCGGCCGGCGTGG	0.711																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(184-186)Ggc>Cgc		serine/threonine kinase 19							19.0	24.0	23.0					6																	31939957		2175	4265	6440	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939957G>C	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.184G>C	6.37:g.31939957G>C	ENSP00000364482:p.Gly62Arg					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.G62R|DOM3Z_ENST00000375349.3_5'UTR	p.G62R	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	350	+			62					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.184G>C	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996318	0.35226	.	.	ENSG00000204344	ENST00000460018;ENST00000375331;ENST00000375333	T;T;T	0.58797	0.31;1.33;1.32	4.31	-5.38	0.02673	.	2.269290	0.02482	N	0.088592	T	0.25644	0.0624	N	0.14661	0.345	0.09310	N	1	D;P;B	0.57257	0.979;0.57;0.435	P;B;B	0.54706	0.759;0.35;0.19	T	0.23583	-1.0184	10	0.34782	T	0.22	1.0E-4	2.8704	0.05615	0.3924:0.113:0.3811:0.1135	.	62;62;62	B4E0M4;P49842-2;P49842	.;.;STK19_HUMAN	R	62	ENSP00000418350:G62R;ENSP00000364480:G62R;ENSP00000364482:G62R	ENSP00000364480:G62R	G	+	1	0	STK19	32047936	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.129000	0.03244	-1.266000	0.02446	-2.494000	0.00193	GGC		0.711	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			6	42	0	0	0	1	0	6	42				
PMEL	6490	broad.mit.edu	37	12	56350808	56350808	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:56350808T>A	ENST00000548747.1	-	6	1941	c.1279A>T	c.(1279-1281)Aca>Tca	p.T427S	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Missense_Mutation_p.T341S|PMEL_ENST00000449260.2_Missense_Mutation_p.T427S|PMEL_ENST00000360714.4_Missense_Mutation_p.T427S|PMEL_ENST00000550464.1_Missense_Mutation_p.T341S|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_Missense_Mutation_p.T427S|PMEL_ENST00000536427.1_Missense_Mutation_p.T385S|PMEL_ENST00000548493.1_Missense_Mutation_p.T427S			P40967	PMEL_HUMAN	premelanosome protein	427	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTCTAGCTGTGGtctccacc	0.493																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1279-1281)Aca>Tca		premelanosome protein							151.0	129.0	137.0					12																	56350808		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56350808T>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1279A>T	12.37:g.56350808T>A	ENSP00000448828:p.Thr427Ser					PMEL_ENST00000360714.4_Missense_Mutation_p.T427S|PMEL_ENST00000548493.1_Missense_Mutation_p.T427S|PMEL_ENST00000552882.1_Missense_Mutation_p.T427S|PMEL_ENST00000536427.1_Missense_Mutation_p.T385S|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.T427S|PMEL_ENST00000550464.1_Missense_Mutation_p.T341S|PMEL_ENST00000539511.1_Missense_Mutation_p.T341S	p.T427S			P40967	PMEL_HUMAN			6	1941	-			427			10 X 13 AA approximate tandem repeats, RPT domain.		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1279A>T	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.209|4.209	0.037475|0.037475	0.08148|0.08148	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000549404|ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000548803	.|T;T;T;T;T;T;T;T;T	.|0.37058	.|2.98;3.01;3.0;3.01;3.01;2.98;2.73;3.0;1.22	4.84|4.84	2.39|2.39	0.29439|0.29439	.|.	.|0.255237	.|0.27151	.|N	.|0.020687	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.08118|0.08118	0|0	0.21473|0.21473	N|N	0.999677|0.999677	.|B;B;B	.|0.31435	.|0.323;0.211;0.134	.|B;B;B	.|0.30495	.|0.116;0.027;0.012	T|T	0.12889|0.12889	-1.0530|-1.0530	5|10	.|0.33940	.|T	.|0.23	-0.522|-0.522	5.4551|5.4551	0.16586|0.16586	0.0:0.0942:0.175:0.7308|0.0:0.0942:0.175:0.7308	.|.	.|341;427;427	.|P40967-3;P40967-2;P40967	.|.;.;PMEL_HUMAN	L|S	272|427;427;341;427;427;427;385;341;236	.|ENSP00000402758:T427S;ENSP00000449690:T427S;ENSP00000450036:T341S;ENSP00000448828:T427S;ENSP00000447374:T427S;ENSP00000353940:T427S;ENSP00000438695:T385S;ENSP00000445005:T341S;ENSP00000447732:T236S	.|ENSP00000353940:T427S	H|T	-|-	2|1	0|0	PMEL|PMEL	54637075|54637075	0.815000|0.815000	0.29118|0.29118	0.444000|0.444000	0.26895|0.26895	0.065000|0.065000	0.16274|0.16274	0.741000|0.741000	0.26202|0.26202	0.374000|0.374000	0.24650|0.24650	-0.256000|-0.256000	0.11100|0.11100	CAC|ACA		0.493	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		5	40	0	0	0	1	0	5	40				
CDCP2	200008	broad.mit.edu	37	1	54607069	54607069	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:54607069G>A	ENST00000371330.1	-	3	1312	c.465C>T	c.(463-465)gtC>gtT	p.V155V	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	155	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACTGGTGAGGACCCCTGACA	0.607																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(463-465)gtC>gtT		CUB domain containing protein 2							41.0	43.0	42.0					1																	54607069		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54607069G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.465C>T	1.37:g.54607069G>A						RP11-446E24.4_ENST00000525949.1_5'UTR	p.V155V	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			3	1312	-			155			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.465C>T	CCDS588.2																																																																																				0.607	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		8	29	0	0	0	1	0	8	29				
HSPA2	3306	broad.mit.edu	37	14	65008290	65008290	+	Silent	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:65008290G>T	ENST00000394709.1	+	2	799	c.723G>T	c.(721-723)gtG>gtT	p.V241V	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Silent_p.V241V			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	241					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACCGCATGGTGAGCCACCTGG	0.647																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(721-723)gtG>gtT		heat shock 70kDa protein 2							49.0	53.0	52.0					14																	65008290		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008290G>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.723G>T	14.37:g.65008290G>T						HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.V241V	p.V241V	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1105	+			241					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.723G>T	CCDS9766.1																																																																																				0.647	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			5	77	1	0	2.0095e-06	1	2.13942e-06	5	77				
ACAN	176	broad.mit.edu	37	15	89400509	89400509	+	Missense_Mutation	SNP	G	G	A	rs563535889	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:89400509G>A	ENST00000561243.1	+	11	4693	c.4693G>A	c.(4693-4695)Gac>Aac	p.D1565N	ACAN_ENST00000439576.2_Missense_Mutation_p.D1565N|ACAN_ENST00000352105.7_Missense_Mutation_p.D1565N|ACAN_ENST00000559004.1_Missense_Mutation_p.D1565N			P16112	PGCA_HUMAN	aggrecan	1599	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGGACTGACCTCAGTGG	0.522																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4693-4695)Gac>Aac		aggrecan							53.0	55.0	55.0					15																	89400509		1847	4098	5945	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400509G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4693G>A	15.37:g.89400509G>A	ENSP00000453342:p.Asp1565Asn					ACAN_ENST00000559004.1_Missense_Mutation_p.D1565N|ACAN_ENST00000561243.1_Missense_Mutation_p.D1565N|ACAN_ENST00000352105.7_Missense_Mutation_p.D1565N	p.D1565N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5067	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1565					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4693G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030746	0.54790	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96554	-4.05;-4.05	4.79	2.76	0.32466	.	0.485095	0.15393	N	0.264740	D	0.97393	0.9147	M	0.79258	2.445	0.09310	N	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.987;0.996	D	0.91834	0.5478	10	0.33940	T	0.23	-7.5187	9.9664	0.41727	0.0803:0.1397:0.78:0.0	.	1565;1565	E7ENV9;E7EX88	.;.	N	1565;1565;1451	ENSP00000387356:D1565N;ENSP00000341615:D1565N	ENSP00000268134:D1451N	D	+	1	0	ACAN	87201513	0.430000	0.25538	0.023000	0.16930	0.822000	0.46500	1.844000	0.39269	1.360000	0.45960	0.655000	0.94253	GAC		0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		11	51	0	0	0	1	0	11	51				
NME8	51314	broad.mit.edu	37	7	37889995	37889995	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:37889995C>G	ENST00000199447.4	+	4	421	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	NME8_ENST00000440017.1_Missense_Mutation_p.Q17E|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	17	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CATCAATAATCAAAGCCTGTG	0.488																																						ENST00000199447.4																			0											c.(49-51)Caa>Gaa		NME/NM23 family member 8							185.0	188.0	187.0					7																	37889995		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37889995C>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.49C>G	7.37:g.37889995C>G	ENSP00000199447:p.Gln17Glu					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.Q17E	p.Q17E	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			4	421	+			17			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.49C>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261148	0.23051	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.19250	2.16;2.16	5.12	4.19	0.49359	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.262609	0.27522	N	0.019000	T	0.27866	0.0686	L	0.45352	1.415	0.20074	N	0.999939	P	0.42908	0.793	P	0.48654	0.585	T	0.07986	-1.0744	10	0.66056	D	0.02	-18.4967	14.4551	0.67411	0.0:0.8382:0.1618:0.0	.	17	Q8N427	TXND3_HUMAN	E	17	ENSP00000199447:Q17E;ENSP00000397063:Q17E	ENSP00000199447:Q17E	Q	+	1	0	TXNDC3	37856520	0.996000	0.38824	0.146000	0.22360	0.026000	0.11368	3.473000	0.53122	2.395000	0.81488	0.561000	0.74099	CAA		0.488	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		25	139	0	0	0	1	0	25	139				
MGA	23269	broad.mit.edu	37	15	42058385	42058385	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:42058385C>T	ENST00000570161.1	+	23	8105	c.8105C>T	c.(8104-8106)tCt>tTt	p.S2702F	MGA_ENST00000545763.1_Missense_Mutation_p.S2493F|MGA_ENST00000219905.7_Missense_Mutation_p.S2702F|MGA_ENST00000566586.1_Missense_Mutation_p.S2493F|MGA_ENST00000389936.4_Missense_Mutation_p.S2663F			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGTAGAATCTCTTCCAGAGGA	0.428																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(8104-8106)tCt>tTt		MGA, MAX dimerization protein							60.0	58.0	59.0					15																	42058385		1887	4105	5992	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058385C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8105C>T	15.37:g.42058385C>T	ENSP00000457035:p.Ser2702Phe					MGA_ENST00000570161.1_Missense_Mutation_p.S2702F|MGA_ENST00000545763.1_Missense_Mutation_p.S2493F|MGA_ENST00000566586.1_Missense_Mutation_p.S2493F|MGA_ENST00000389936.4_Missense_Mutation_p.S2663F	p.S2702F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8286	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2663					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8105C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218776	0.58560	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85955	-2.02;-2.04;-2.05	5.37	5.37	0.77165	.	1.354340	0.05039	N	0.476003	D	0.85792	0.5779	N	0.19112	0.55	0.25629	N	0.986321	D;D	0.63880	0.993;0.987	P;P	0.60473	0.875;0.809	T	0.73968	-0.3815	10	0.87932	D	0	.	7.8593	0.29501	0.0:0.7392:0.1765:0.0843	.	2493;2702	F5H7K2;E7ENI0	.;.	F	2702;2663;2493	ENSP00000219905:S2702F;ENSP00000374586:S2663F;ENSP00000442467:S2493F	ENSP00000219905:S2702F	S	+	2	0	MGA	39845677	0.999000	0.42202	1.000000	0.80357	0.820000	0.46376	1.803000	0.38863	2.788000	0.95919	0.650000	0.86243	TCT		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	22	0	0	0	1	0	5	22				
OR4F15	390649	broad.mit.edu	37	15	102358936	102358936	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:102358936C>T	ENST00000332238.4	+	1	571	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGATCTCCCTCGGCTCCTCAG	0.428																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(547-549)Cgg>Tgg		olfactory receptor, family 4, subfamily F, member 15							234.0	213.0	220.0					15																	102358936		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358936C>T	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.547C>T	15.37:g.102358936C>T	ENSP00000333184:p.Arg183Trp						p.R183W	NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	571	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		183					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.547C>T	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807341	0.16467	.	.	ENSG00000182854	ENST00000332238	T	0.00137	8.68	5.57	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.373938	0.23025	N	0.052820	T	0.00178	0.0005	L	0.60455	1.87	0.09310	N	1	B	0.33266	0.404	B	0.34931	0.192	T	0.34403	-0.9830	9	.	.	.	.	12.3916	0.55362	0.0:0.9194:0.0:0.0806	.	183	Q8NGB8	O4F15_HUMAN	W	183	ENSP00000333184:R183W	.	R	+	1	2	OR4F15	100176459	0.001000	0.12720	0.037000	0.18230	0.417000	0.31264	0.894000	0.28350	1.593000	0.50029	0.650000	0.86243	CGG		0.428	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		19	132	0	0	0	1	0	19	132				
SNAP91	9892	broad.mit.edu	37	6	84270599	84270599	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:84270599C>T	ENST00000439399.2	-	27	2826	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	SNAP91_ENST00000521743.1_Missense_Mutation_p.G837E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G832E|SNAP91_ENST00000520302.1_Missense_Mutation_p.G807E|SNAP91_ENST00000428679.2_Missense_Mutation_p.G837E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G832E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G530E	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	837	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.G837A(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATCCTGCTCCAGGTTGTCC	0.418																																						ENST00000428679.2																			4	Substitution - Missense(4)	p.G837A(4)	lung(4)	breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2509-2511)gGa>gAa		synaptosomal-associated protein, 91kDa							45.0	45.0	45.0					6																	84270599		1936	4142	6078	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84270599C>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2510G>A	6.37:g.84270599C>T	ENSP00000400459:p.Gly837Glu					SNAP91_ENST00000520302.1_Missense_Mutation_p.G807E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530E|SNAP91_ENST00000521743.1_Missense_Mutation_p.G837E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G530E|SNAP91_ENST00000439399.2_Missense_Mutation_p.G837E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G832E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G832E	p.G837E			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	27	3103	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	837			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2510G>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974544	0.34848	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.24350	2.38;2.39;2.39;2.38;2.38;2.41;2.39;2.39;2.41;1.86	5.51	3.72	0.42706	.	0.479696	0.24220	N	0.040455	T	0.26159	0.0638	L	0.43152	1.355	0.22489	N	0.999054	P;D;D;D;D	0.89917	0.845;1.0;1.0;1.0;1.0	B;D;D;D;D	0.87578	0.326;0.998;0.996;0.996;0.996	T	0.08889	-1.0700	10	0.66056	D	0.02	-3.9846	10.9209	0.47163	0.1377:0.5968:0.2655:0.0	.	713;530;807;837;835	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	E	832;837;837;832;837;530;807;837;530;178	ENSP00000429776:G832E;ENSP00000358708:G837E;ENSP00000400459:G837E;ENSP00000195649:G832E;ENSP00000412492:G837E;ENSP00000413277:G530E;ENSP00000428511:G807E;ENSP00000428215:G837E;ENSP00000428026:G530E;ENSP00000430255:G178E	ENSP00000195649:G832E	G	-	2	0	SNAP91	84327318	1.000000	0.71417	0.973000	0.42090	0.092000	0.18411	2.278000	0.43426	0.681000	0.31386	-0.373000	0.07131	GGA		0.418	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			3	23	0	0	0	1	0	3	23				
NSUN3	63899	broad.mit.edu	37	3	93803224	93803224	+	Silent	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:93803224G>T	ENST00000314622.4	+	3	607	c.396G>T	c.(394-396)ggG>ggT	p.G132G		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	132							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TAAGGGATGGGGAGAAGGTTC	0.448																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(394-396)ggG>ggT		NOP2/Sun domain family, member 3							99.0	101.0	100.0					3																	93803224		2202	4299	6501	SO:0001819	synonymous_variant	63899						methyltransferase activity	g.chr3:93803224G>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.396G>T	3.37:g.93803224G>T							p.G132G	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN			3	607	+			132					Q6PG41|Q8IXG9|Q9H6M2	Silent	SNP	ENST00000314622.4	37	c.396G>T	CCDS2927.1																																																																																				0.448	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		7	66	1	0	1.06961e-07	1	1.15369e-07	7	66				
TYW1B	441250	broad.mit.edu	37	7	72178588	72178588	+	RNA	SNP	G	G	A	rs180988100		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:72178588G>A	ENST00000435769.2	-	0	1484				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CCTGATTTCCGCAGGAAATTG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19919	0.0		0.001	False		,,,				2504	0.0					ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							127.0	112.0	117.0					7																	72178588		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72178588G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72178588G>A										Q6NUM6	TYW1B_HUMAN			0	974	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		6	51	0	0	0	1	0	6	51				
FAT4	79633	broad.mit.edu	37	4	126240528	126240528	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:126240528G>T	ENST00000394329.3	+	1	2975	c.2962G>T	c.(2962-2964)Gat>Tat	p.D988Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	988	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTATGTCCATGATGTAAATGA	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2962-2964)Gat>Tat		FAT atypical cadherin 4							107.0	104.0	105.0					4																	126240528		1947	4140	6087	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240528G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2962G>T	4.37:g.126240528G>T	ENSP00000377862:p.Asp988Tyr						p.D988Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2975	+			988			Cadherin 9.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2962G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938276	0.52972	.	.	ENSG00000196159	ENST00000394329	T	0.76316	-1.01	5.0	5.0	0.66597	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35378	U	0.003259	D	0.92655	0.7666	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95102	0.8231	10	0.87932	D	0	.	18.5243	0.90965	0.0:0.0:1.0:0.0	.	988	Q6V0I7	FAT4_HUMAN	Y	988	ENSP00000377862:D988Y	ENSP00000377862:D988Y	D	+	1	0	FAT4	126459978	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	9.454000	0.97621	2.596000	0.87737	0.655000	0.94253	GAT		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	96	1	0	3.27435e-08	1	3.53945e-08	14	96				
TET1	80312	broad.mit.edu	37	10	70405188	70405188	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:70405188C>T	ENST00000373644.4	+	4	2911	c.2702C>T	c.(2701-2703)tCa>tTa	p.S901L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	901					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTCAACTCTCAGAAGCCCCA	0.453																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(2701-2703)tCa>tTa		tet methylcytosine dioxygenase 1							100.0	105.0	103.0					10																	70405188		2203	4298	6501	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405188C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2702C>T	10.37:g.70405188C>T	ENSP00000362748:p.Ser901Leu						p.S901L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			4	2911	+			901					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.2702C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691244	0.88735	.	.	ENSG00000138336	ENST00000373644	T	0.21932	1.98	5.79	5.79	0.91817	.	0.122741	0.34133	N	0.004240	T	0.38558	0.1045	L	0.36672	1.1	0.46521	D	0.999081	D	0.89917	1.0	D	0.71184	0.972	T	0.06075	-1.0847	10	0.72032	D	0.01	.	18.2303	0.89933	0.0:1.0:0.0:0.0	.	901	Q8NFU7	TET1_HUMAN	L	901	ENSP00000362748:S901L	ENSP00000362748:S901L	S	+	2	0	TET1	70075194	1.000000	0.71417	0.959000	0.39883	0.971000	0.66376	6.516000	0.73755	2.753000	0.94483	0.557000	0.71058	TCA		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		35	234	0	0	0	1	0	35	234				
MBD4	8930	broad.mit.edu	37	3	129151307	129151307	+	Intron	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:129151307G>C	ENST00000249910.1	-	7	1841				MBD4_ENST00000503197.1_Intron|MBD4_ENST00000429544.2_Intron|MBD4_ENST00000507208.1_Silent_p.V568V|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTGCCTCAGAGACCAAATGTG	0.423								Base excision repair (BER), DNA glycosylases																														ENST00000507208.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1702-1704)gtC>gtG	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							94.0	86.0	89.0					3																	129151307		2203	4300	6503	SO:0001627	intron_variant	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129151307G>C	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1665+38C>G	3.37:g.129151307G>C						MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Intron|MBD4_ENST00000503197.1_Intron|MBD4_ENST00000429544.2_Intron	p.V568V	NM_001276271.1	NP_001263200.1	O95243	MBD4_HUMAN			7	1905	-			0		D -> H (in dbSNP:rs2307293).			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	c.1704C>G	CCDS3058.1																																																																																				0.423	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		12	69	0	0	0	1	0	12	69				
MAS1L	116511	broad.mit.edu	37	6	29455369	29455369	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:29455369G>A	ENST00000377127.3	-	1	369	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	104					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGATTCGTGGCCCCACAGCA	0.547																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(310-312)gCc>gTc		MAS1 oncogene-like							69.0	63.0	65.0					6																	29455369		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455369G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.311C>T	6.37:g.29455369G>A	ENSP00000366331:p.Ala104Val						p.A104V	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	369	-			104					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.311C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	4.978	0.181687	0.09495	.	.	ENSG00000204687	ENST00000377127	T	0.36699	1.24	2.6	-5.2	0.02823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11537	0.0281	N	0.14661	0.345	0.09310	N	1	P	0.44986	0.847	P	0.55713	0.782	T	0.07290	-1.0780	9	0.42905	T	0.14	.	1.355	0.02180	0.1488:0.3362:0.1535:0.3615	.	104	P35410	MAS1L_HUMAN	V	104	ENSP00000366331:A104V	ENSP00000366331:A104V	A	-	2	0	MAS1L	29563348	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	1.620000	0.36976	-1.177000	0.02744	-1.494000	0.00967	GCC		0.547	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		14	33	0	0	0	1	0	14	33				
DAB1	1600	broad.mit.edu	37	1	57756644	57756644	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:57756644C>G	ENST00000371231.1	-	1	93	c.59G>C	c.(58-60)aGa>aCa	p.R20T	DAB1_ENST00000420954.2_Missense_Mutation_p.R20T|DAB1_ENST00000371230.1_Missense_Mutation_p.R20T|DAB1_ENST00000371236.2_Missense_Mutation_p.R20T|DAB1_ENST00000414851.2_Missense_Mutation_p.R20T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.R20T|DAB1_ENST00000371234.4_Missense_Mutation_p.R20T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	20					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACCTTTCTTTCTGGAGTCTTT	0.398																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(58-60)aGa>aCa		Dab, reelin signal transducer, homolog 1 (Drosophila)							146.0	135.0	139.0					1																	57756644		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57756644C>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.59G>C	1.37:g.57756644C>G	ENSP00000360275:p.Arg20Thr					DAB1_ENST00000439789.2_Missense_Mutation_p.R20T|DAB1_ENST00000371234.4_Missense_Mutation_p.R20T|DAB1_ENST00000420954.2_Missense_Mutation_p.R20T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.R20T|DAB1_ENST00000414851.2_Missense_Mutation_p.R20T|DAB1_ENST00000371231.1_Missense_Mutation_p.R20T	p.R20T			O75553	DAB1_HUMAN			2	322	-			20					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.59G>C		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292489	0.40594	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.65178	0.83;0.83;0.93;0.92;1.89;0.89;0.9;-0.08;-0.14	5.43	2.57	0.30868	.	0.252225	0.36815	N	0.002390	T	0.53142	0.1778	L	0.46157	1.445	0.21105	N	0.999782	P;B;B;P;B	0.38195	0.554;0.017;0.163;0.622;0.227	B;B;B;B;B	0.41691	0.107;0.011;0.108;0.364;0.1	T	0.40813	-0.9543	10	0.34782	T	0.22	-20.7246	6.9579	0.24582	0.0:0.5344:0.0:0.4656	.	20;20;20;20;20	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	T	20	ENSP00000360280:R20T;ENSP00000360278:R20T;ENSP00000395296:R20T;ENSP00000387581:R20T;ENSP00000409328:R20T;ENSP00000360275:R20T;ENSP00000360276:R20T;ENSP00000329120:R20T;ENSP00000360274:R20T	ENSP00000329120:R20T	R	-	2	0	DAB1	57529232	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.414000	0.34736	0.425000	0.26087	0.655000	0.94253	AGA		0.398	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		8	47	0	0	0	1	0	8	47				
LAMC2	3918	broad.mit.edu	37	1	183201866	183201866	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:183201866C>G	ENST00000264144.4	+	14	2159	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	LAMC2_ENST00000493293.1_Silent_p.L698L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	698	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGGATGACCTCAAGATGACTG	0.552																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2092-2094)ctC>ctG		laminin, gamma 2							104.0	107.0	106.0					1																	183201866		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183201866C>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2094C>G	1.37:g.183201866C>G						LAMC2_ENST00000493293.1_Silent_p.L698L	p.L698L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			14	2159	+			698			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.2094C>G	CCDS1352.1																																																																																				0.552	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		5	113	0	0	0	1	0	5	113				
ACSBG2	81616	broad.mit.edu	37	19	6141576	6141576	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:6141576C>G	ENST00000586696.1	+	2	298	c.22C>G	c.(22-24)Caa>Gaa	p.Q8E	ACSBG2_ENST00000591403.1_Missense_Mutation_p.Q8E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.Q8E|ACSBG2_ENST00000588304.1_5'UTR|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	8					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCAAAGACTCAAGAAGGAGC	0.448																																						ENST00000586696.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(22-24)Caa>Gaa		acyl-CoA synthetase bubblegum family member 2							92.0	84.0	87.0					19																	6141576		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6141576C>G		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.22C>G	19.37:g.6141576C>G	ENSP00000465589:p.Gln8Glu					ACSBG2_ENST00000591403.1_Missense_Mutation_p.Q8E|ACSBG2_ENST00000588304.1_5'UTR|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.Q8E	p.Q8E			Q5FVE4	ACBG2_HUMAN			2	298	+			8					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.22C>G	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	2.306	-0.358938	0.05138	.	.	ENSG00000130377	ENST00000252669	T	0.15139	2.45	4.36	3.32	0.38043	.	1.881610	0.03425	N	0.206890	T	0.12944	0.0314	L	0.36672	1.1	0.09310	N	1	B;B	0.29037	0.231;0.231	B;B	0.19666	0.026;0.026	T	0.31251	-0.9950	10	0.02654	T	1	-0.162	8.738	0.34541	0.0:0.8916:0.0:0.1084	.	8;8	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	E	8	ENSP00000252669:Q8E	ENSP00000252669:Q8E	Q	+	1	0	ACSBG2	6092576	0.001000	0.12720	0.028000	0.17463	0.010000	0.07245	0.002000	0.13061	1.130000	0.42092	0.555000	0.69702	CAA		0.448	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		7	46	0	0	0	1	0	7	46				
DNAJC8	22826	broad.mit.edu	37	1	28559461	28559461	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:28559461C>T	ENST00000263697.4	-	1	75	c.49G>A	c.(49-51)Gag>Aag	p.E17K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	17					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		AATGCTTCCTCGGTGCTGCCT	0.632																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(49-51)Gag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 8							63.0	75.0	71.0					1																	28559461		2132	4236	6368	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28559461C>T	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.49G>A	1.37:g.28559461C>T	ENSP00000263697:p.Glu17Lys					DNAJC8_ENST00000489277.1_5'UTR	p.E17K	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	1	75	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	17					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.49G>A	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842406	0.71488	.	.	ENSG00000126698	ENST00000263697	T	0.65364	-0.15	4.48	4.48	0.54585	Heat shock protein DnaJ, N-terminal (1);	0.176794	0.50627	N	0.000102	T	0.66723	0.2818	L	0.52573	1.65	0.50039	D	0.999849	P	0.44090	0.826	P	0.52189	0.692	T	0.64803	-0.6321	10	0.35671	T	0.21	-12.6185	14.5176	0.67830	0.0:1.0:0.0:0.0	.	17	O75937	DNJC8_HUMAN	K	17	ENSP00000263697:E17K	ENSP00000263697:E17K	E	-	1	0	DNAJC8	28432048	0.990000	0.36364	0.982000	0.44146	0.946000	0.59487	3.775000	0.55349	2.482000	0.83794	0.655000	0.94253	GAG		0.632	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		6	65	0	0	0	1	0	6	65				
NLGN1	22871	broad.mit.edu	37	3	173997312	173997312	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:173997312C>T	ENST00000457714.1	+	6	1950	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	NLGN1_ENST00000545397.1_Silent_p.D507D|NLGN1_ENST00000401917.3_Silent_p.D547D|NLGN1_ENST00000361589.4_Silent_p.D507D	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	524					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.D507D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCACGGAGACGAGGTTCCCT	0.453																																						ENST00000457714.1																			1	Substitution - coding silent(1)	p.D507D(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1519-1521)gaC>gaT		neuroligin 1							61.0	58.0	59.0					3																	173997312		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997312C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1521C>T	3.37:g.173997312C>T						NLGN1_ENST00000401917.3_Silent_p.D547D|NLGN1_ENST00000361589.4_Silent_p.D507D|NLGN1_ENST00000545397.1_Silent_p.D507D	p.D507D	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1950	+	Ovarian(172;0.0025)		524					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1521C>T	CCDS3222.1																																																																																				0.453	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		4	61	0	0	0	1	0	4	61				
UGGT1	56886	broad.mit.edu	37	2	128930293	128930293	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:128930293C>T	ENST00000259253.6	+	29	3298	c.3251C>T	c.(3250-3252)tCt>tTt	p.S1084F	UGGT1_ENST00000375990.3_Missense_Mutation_p.S1060F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1084					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGGTAGAATCTGTCAGAACA	0.358																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3178-3180)tCt>tTt		UDP-glucose glycoprotein glucosyltransferase 1							95.0	94.0	94.0					2																	128930293		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128930293C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3251C>T	2.37:g.128930293C>T	ENSP00000259253:p.Ser1084Phe					UGGT1_ENST00000259253.6_Missense_Mutation_p.S1084F	p.S1060F			Q9NYU2	UGGG1_HUMAN			29	3582	+			1084					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.3179C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391573	0.83011	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.32272	1.46;1.46	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.81341	2.54	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.61787	-0.6991	9	.	.	.	.	14.7428	0.69469	0.0:0.9308:0.0:0.0692	.	1084	Q9NYU2	UGGG1_HUMAN	F	1060;1084	ENSP00000365158:S1060F;ENSP00000259253:S1084F	.	S	+	2	0	UGGT1	128646763	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.463000	0.80869	1.476000	0.48215	0.591000	0.81541	TCT		0.358	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		10	79	0	0	0	1	0	10	79				
EYS	346007	broad.mit.edu	37	6	66205295	66205295	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:66205295G>T	ENST00000370621.3	-	4	535	c.9C>A	c.(7-9)gaC>gaA	p.D3E	EYS_ENST00000342421.5_Missense_Mutation_p.D3E|EYS_ENST00000370618.3_Missense_Mutation_p.D3E|EYS_ENST00000393380.2_Missense_Mutation_p.D3E|EYS_ENST00000370616.2_Missense_Mutation_p.D3E|EYS_ENST00000503581.1_Missense_Mutation_p.D3E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	3					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CGATTGATTTGTCAGTCATTT	0.373																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(7-9)gaC>gaA		eyes shut homolog (Drosophila)							57.0	56.0	56.0					6																	66205295		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205295G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.9C>A	6.37:g.66205295G>T	ENSP00000359655:p.Asp3Glu					EYS_ENST00000393380.2_Missense_Mutation_p.D3E|EYS_ENST00000342421.5_Missense_Mutation_p.D3E|EYS_ENST00000370616.2_Missense_Mutation_p.D3E|EYS_ENST00000370618.3_Missense_Mutation_p.D3E|EYS_ENST00000370621.3_Missense_Mutation_p.D3E	p.D3E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	546	-			3					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.9C>A		.	.	.	.	.	.	.	.	.	.	G	11.41	1.631465	0.29068	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89617	-1.6;-1.58;-1.58;-2.54;-2.49;-2.49	4.47	1.68	0.24146	.	.	.	.	.	T	0.57844	0.2081	N	0.08118	0	0.09310	N	1	B;B;B	0.27732	0.187;0.187;0.118	B;B;B	0.27500	0.051;0.08;0.037	T	0.53570	-0.8420	9	0.51188	T	0.08	.	4.3847	0.11311	0.2894:0.166:0.5446:0.0	.	3;3;3	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	E	3	ENSP00000424243:D3E;ENSP00000359655:D3E;ENSP00000359650:D3E;ENSP00000377042:D3E;ENSP00000341818:D3E;ENSP00000359652:D3E	ENSP00000341818:D3E	D	-	3	2	EYS	66262016	0.012000	0.17670	0.001000	0.08648	0.198000	0.23893	0.335000	0.19806	0.097000	0.17492	0.585000	0.79938	GAC		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		48	33	1	0	1.00776e-21	1	1.12887e-21	48	33				
MLH3	27030	broad.mit.edu	37	14	75514858	75514858	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:75514858A>G	ENST00000556740.1	-	1	1536	c.1501T>C	c.(1501-1503)Tgt>Cgt	p.C501R	MLH3_ENST00000238662.7_Missense_Mutation_p.C501R|MLH3_ENST00000556257.1_Missense_Mutation_p.C501R|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.C501R			Q9UHC1	MLH3_HUMAN	mutL homolog 3	501					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTGGTTCCACACGGATTTTCT	0.368								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1501-1503)Tgt>Cgt	Mismatch excision repair (MMR)	mutL homolog 3							87.0	93.0	91.0					14																	75514858		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514858A>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1501T>C	14.37:g.75514858A>G	ENSP00000452316:p.Cys501Arg					MLH3_ENST00000556740.1_Missense_Mutation_p.C501R|MLH3_ENST00000238662.7_Missense_Mutation_p.C501R|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.C501R	p.C501R	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1716	-			501					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1501T>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	A	8.587	0.883584	0.17467	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.34	-5.21	0.02815	.	1.550750	0.03136	N	0.165909	T	0.22551	0.0544	L	0.60455	1.87	0.09310	N	1	P;P	0.41265	0.589;0.744	B;B	0.33690	0.157;0.168	T	0.30679	-0.9970	10	0.39692	T	0.17	3.3169	3.1686	0.06544	0.2481:0.1114:0.4224:0.2181	.	501;501	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	R	501	ENSP00000348020:C501R;ENSP00000238662:C501R;ENSP00000451540:C501R;ENSP00000452316:C501R	ENSP00000238662:C501R	C	-	1	0	MLH3	74584611	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.230000	0.02942	-0.879000	0.04002	-0.361000	0.07541	TGT		0.368	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		11	88	0	0	0	1	0	11	88				
DIDO1	11083	broad.mit.edu	37	20	61542690	61542690	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:61542690G>C	ENST00000266070.4	-	3	600	c.275C>G	c.(274-276)tCc>tGc	p.S92C	DIDO1_ENST00000370368.1_Missense_Mutation_p.S92C|DIDO1_ENST00000266071.5_Missense_Mutation_p.S92C|DIDO1_ENST00000354665.4_Missense_Mutation_p.S92C|DIDO1_ENST00000395343.1_Missense_Mutation_p.S92C|DIDO1_ENST00000370371.4_Missense_Mutation_p.S92C|DIDO1_ENST00000370366.1_Missense_Mutation_p.S92C|DIDO1_ENST00000395335.2_Missense_Mutation_p.S92C|DIDO1_ENST00000395340.1_Missense_Mutation_p.S92C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	92					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATCCTCCAGGGAGACAGGCAT	0.692																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(274-276)tCc>tGc		death inducer-obliterator 1							25.0	24.0	25.0					20																	61542690		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542690G>C	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.275C>G	20.37:g.61542690G>C	ENSP00000266070:p.Ser92Cys					DIDO1_ENST00000370371.4_Missense_Mutation_p.S92C|DIDO1_ENST00000370368.1_Missense_Mutation_p.S92C|DIDO1_ENST00000266071.5_Missense_Mutation_p.S92C|DIDO1_ENST00000354665.4_Missense_Mutation_p.S92C|DIDO1_ENST00000395343.1_Missense_Mutation_p.S92C|DIDO1_ENST00000395335.2_Missense_Mutation_p.S92C|DIDO1_ENST00000370366.1_Missense_Mutation_p.S92C|DIDO1_ENST00000395340.1_Missense_Mutation_p.S92C	p.S92C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	600	-	Breast(26;5.68e-08)		92					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.275C>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105172	0.20632	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.20598	2.92;2.92;2.55;2.55;2.06;2.06;2.06;2.07;2.07	5.63	4.66	0.58398	.	0.191597	0.25402	U	0.030938	T	0.24624	0.0597	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.21071	0.01;0.051;0.051;0.03	B;B;B;B	0.19391	0.015;0.015;0.025;0.017	T	0.18713	-1.0328	10	0.72032	D	0.01	-32.902	14.0499	0.64730	0.0:0.2872:0.7128:0.0	.	92;92;92;92	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	C	92	ENSP00000266070:S92C;ENSP00000378752:S92C;ENSP00000378749:S92C;ENSP00000378744:S92C;ENSP00000359397:S92C;ENSP00000359394:S92C;ENSP00000346692:S92C;ENSP00000359391:S92C;ENSP00000266071:S92C	ENSP00000266070:S92C	S	-	2	0	DIDO1	61013135	0.103000	0.21917	0.833000	0.33012	0.093000	0.18481	2.385000	0.44371	1.350000	0.45770	0.655000	0.94253	TCC		0.692	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	38	0	0	0	1	0	9	38				
MPRIP	23164	broad.mit.edu	37	17	17076067	17076067	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:17076067G>C	ENST00000341712.4	+	17	2367	c.2367G>C	c.(2365-2367)aaG>aaC	p.K789N	RNU6-767P_ENST00000384132.1_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.K751N|MPRIP_ENST00000395804.3_Missense_Mutation_p.K789N|MPRIP_ENST00000395811.5_Missense_Mutation_p.K789N			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	789	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGCTGGAGAAGAGCCAGCGGT	0.652																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2365-2367)aaG>aaC		myosin phosphatase Rho interacting protein							95.0	86.0	89.0					17																	17076067		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17076067G>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2367G>C	17.37:g.17076067G>C	ENSP00000342379:p.Lys789Asn					MPRIP_ENST00000395804.3_Missense_Mutation_p.K789N|MPRIP_ENST00000341712.4_Missense_Mutation_p.K789N|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.K751N	p.K789N	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			17	2456	+			789			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2367G>C	CCDS32578.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.3|20.3|20.3	3.967318|3.967318|3.967318	0.74131|0.74131|0.74131	.|.|.	.|.|.	ENSG00000133030|ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000414263	.|T;T;T;T|.	.|0.29917|.	.|1.55;1.86;1.9;1.9|.	4.98|4.98|4.98	2.56|2.56|2.56	0.30785|0.30785|0.30785	.|.|.	.|0.057425|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.62780|0.62780|0.62780	0.2456|0.2456|0.2456	L|L|L	0.61387|0.61387|0.61387	1.9|1.9|1.9	0.42683|0.42683|0.42683	D|D|D	0.993559|0.993559|0.993559	.|D;D;D;P;D|.	.|0.89917|.	.|0.996;0.999;1.0;0.907;1.0|.	.|D;D;D;P;D|.	.|0.97110|.	.|0.951;0.99;1.0;0.691;0.97|.	T|T|T	0.62177|0.62177|0.62177	-0.6909|-0.6909|-0.6909	5|10|5	.|0.30854|.	.|T|.	.|0.27|.	-30.0335|-30.0335|-30.0335	10.9511|10.9511|10.9511	0.47330|0.47330|0.47330	0.1999:0.0:0.8001:0.0|0.1999:0.0:0.8001:0.0|0.1999:0.0:0.8001:0.0	.|.|.	.|788;751;1153;789;789|.	.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.|.;.;.;.;MPRIP_HUMAN|.	Q|N|T	1154|751;789;789;789|855	.|ENSP00000400189:K751N;ENSP00000379156:K789N;ENSP00000379149:K789N;ENSP00000342379:K789N|.	.|ENSP00000342379:K789N|.	E|K|R	+|+|+	1|3|2	0|2|0	MPRIP|MPRIP|MPRIP	17016792|17016792|17016792	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	2.908000|2.908000|2.908000	0.48750|0.48750|0.48750	1.208000|1.208000|1.208000	0.43306|0.43306|0.43306	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|AAG|AGA		0.652	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		20	80	0	0	0	1	0	20	80				
KMT2D	8085	broad.mit.edu	37	12	49443973	49443973	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:49443973G>C	ENST00000301067.7	-	11	3397	c.3398C>G	c.(3397-3399)tCa>tGa	p.S1133*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1133	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTCTGGCTGTGAACCCGGAGC	0.637																																						ENST00000301067.7																			0											c.(3397-3399)tCa>tGa		lysine (K)-specific methyltransferase 2D							21.0	23.0	22.0					12																	49443973		1898	4103	6001	SO:0001587	stop_gained	8085							g.chr12:49443973G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3398C>G	12.37:g.49443973G>C	ENSP00000301067:p.Ser1133*						p.S1133*	NM_003482.3	NP_003473.3					11	3397	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3398C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	40	8.135347	0.98670	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.32	3.5	0.40072	.	0.612590	0.12451	N	0.467721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4888	0.44739	0.1598:0.0:0.8402:0.0	.	.	.	.	X	1133	.	ENSP00000301067:S1133X	S	-	2	0	MLL2	47730240	0.038000	0.19896	0.998000	0.56505	0.903000	0.53119	2.237000	0.43061	0.624000	0.30286	0.563000	0.77884	TCA		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	23	0	0	0	1	0	9	23				
HIST1H2BG	8339	broad.mit.edu	37	6	26216705	26216705	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:26216705G>A	ENST00000244601.3	-	1	167	c.167C>T	c.(166-168)tCa>tTa	p.S56L	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GGCCTTGGATGAGATGCCAGT	0.537																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(166-168)tCa>tTa		histone cluster 1, H2bg							234.0	212.0	219.0					6																	26216705		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216705G>A	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.167C>T	6.37:g.26216705G>A	ENSP00000244601:p.Ser56Leu						p.S56L	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	167	-		all_hematologic(11;0.196)	56					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.167C>T	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	16.64	3.180487	0.57800	.	.	ENSG00000187990	ENST00000244601	T	0.73681	-0.77	4.12	4.12	0.48240	.	.	.	.	.	T	0.80193	0.4578	.	.	.	0.41726	D	0.989539	.	.	.	.	.	.	T	0.83078	-0.0139	6	0.66056	D	0.02	.	15.8861	0.79251	0.0:0.0:1.0:0.0	.	.	.	.	L	56	ENSP00000244601:S56L	ENSP00000244601:S56L	S	-	2	0	HIST1H2BG	26324684	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	9.420000	0.97426	2.290000	0.77057	0.655000	0.94253	TCA		0.537	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		30	194	0	0	0	1	0	30	194				
CAMKMT	79823	broad.mit.edu	37	2	44931436	44931436	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:44931436G>C	ENST00000378494.3	+	4	435	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	131						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						CTGGCCATCTGAAGAGGTTTT	0.353																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(391-393)Gaa>Caa		calmodulin-lysine N-methyltransferase							107.0	104.0	105.0					2																	44931436		2203	4300	6503	SO:0001583	missense	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44931436G>C		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.391G>C	2.37:g.44931436G>C	ENSP00000367755:p.Glu131Gln						p.E131Q	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			4	435	+			131					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	c.391G>C	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950010	0.53186	.	.	ENSG00000143919	ENST00000378494	T	0.06371	3.31	4.84	4.84	0.62591	.	0.053858	0.64402	N	0.000001	T	0.20618	0.0496	M	0.87097	2.86	0.80722	D	1	B	0.29955	0.263	B	0.40101	0.319	T	0.03945	-1.0990	10	0.66056	D	0.02	-5.8309	18.338	0.90295	0.0:0.0:1.0:0.0	.	131	Q7Z624	CMKMT_HUMAN	Q	131	ENSP00000367755:E131Q	ENSP00000367755:E131Q	E	+	1	0	CAMKMT	44784940	1.000000	0.71417	0.984000	0.44739	0.906000	0.53458	8.444000	0.90323	2.403000	0.81681	0.585000	0.79938	GAA		0.353	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		8	73	0	0	0	1	0	8	73				
DGKK	139189	broad.mit.edu	37	X	50163416	50163416	+	RNA	SNP	C	C	A	rs376826676		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrX:50163416C>A	ENST00000376025.2	-	0	986							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAATTTCTCCCTGTTGGATGG	0.353																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							209.0	176.0	186.0					X																	50163416		1814	4071	5885			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50163416C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50163416C>A										Q5KSL6	DGKK_HUMAN			0	986	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.353	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		11	35	1	0	5.50884e-06	1	5.82734e-06	11	35				
GOLGA2	2801	broad.mit.edu	37	9	131027891	131027891	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr9:131027891G>C	ENST00000421699.2	-	11	837	c.825C>G	c.(823-825)gtC>gtG	p.V275V	GOLGA2_ENST00000609374.1_Silent_p.V263V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	275					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTGCGTGGAGACAGCAGAGA	0.602																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(823-825)gtC>gtG		golgin A2							26.0	25.0	25.0					9																	131027891		2202	4300	6502	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131027891G>C	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.825C>G	9.37:g.131027891G>C							p.V275V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			11	837	-			275					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.825C>G	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	0.549	-0.850394	0.02651	.	.	ENSG00000167110	ENST00000458730	.	.	.	5.72	-2.6	0.06190	.	.	.	.	.	T	0.50120	0.1597	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46119	-0.9214	4	.	.	.	.	6.4113	0.21692	0.1185:0.3907:0.3947:0.0961	.	.	.	.	V	208	.	.	L	-	1	0	GOLGA2	130067712	0.998000	0.40836	0.002000	0.10522	0.030000	0.12068	0.399000	0.20916	-0.156000	0.11079	-0.274000	0.10170	CTC		0.602	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		8	36	0	0	0	1	0	8	36				
WBP11P1	441818	broad.mit.edu	37	18	30092206	30092206	+	RNA	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr18:30092206C>A	ENST00000567636.1	+	0	581					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GAATGCCCAGCACGTGGAAGT	0.423																																						ENST00000567636.1																			0																																																			441818							g.chr18:30092206C>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092206C>A								NR_003558.1						0	581	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.423	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			4	4	1	0	0.150653	1	0.151266	4	4				
CYP4F12	66002	broad.mit.edu	37	19	15794516	15794516	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:15794516C>G	ENST00000550308.1	+	7	1241	c.861C>G	c.(859-861)ttC>ttG	p.F287L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.F287L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	287					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATGATTTTTTCAAAGACAAAG	0.507																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(859-861)ttC>ttG		cytochrome P450, family 4, subfamily F, polypeptide 12							124.0	122.0	123.0					19																	15794516		2201	4299	6500	SO:0001583	missense	66002							g.chr19:15794516C>G	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.861C>G	19.37:g.15794516C>G	ENSP00000448998:p.Phe287Leu					CYP4F12_ENST00000324632.9_Missense_Mutation_p.F287L	p.F287L	NM_023944.3	NP_076433.3					7	1241	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.861C>G	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.865942	0.00063	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.65364	-0.15;-0.15	2.47	1.42	0.22433	.	0.796041	0.10362	N	0.683917	T	0.19406	0.0466	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37009	-0.9724	10	0.02654	T	1	.	4.5866	0.12285	0.0:0.6868:0.0:0.3132	.	287	Q9HCS2	CP4FC_HUMAN	L	287	ENSP00000448998:F287L;ENSP00000321821:F287L	ENSP00000321821:F287L	F	+	3	2	CYP4F12	15655516	0.902000	0.30710	0.014000	0.15608	0.007000	0.05969	0.200000	0.17257	0.596000	0.29794	0.491000	0.48974	TTC		0.507	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			19	99	0	0	0	1	0	19	99				
IQGAP2	10788	broad.mit.edu	37	5	75936882	75936882	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:75936882G>C	ENST00000274364.6	+	17	2345	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	683					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTGAAGCTAGAAAATCATTT	0.408																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2047-2049)aGa>aCa		IQ motif containing GTPase activating protein 2							87.0	88.0	88.0					5																	75936882		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75936882G>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2048G>C	5.37:g.75936882G>C	ENSP00000274364:p.Arg683Thr					IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron	p.R683T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	17	2345	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	683					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2048G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206836	0.79127	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000545384	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.79926	2.475	0.80722	D	1	D;D	0.58970	0.984;0.967	P;P	0.56751	0.805;0.805	T	0.56414	-0.7983	10	0.26408	T	0.33	-26.7397	15.795	0.78404	0.0:0.0:1.0:0.0	.	633;683	E7EWC2;Q13576	.;IQGA2_HUMAN	T	683;656;633;236;236	ENSP00000274364:R683T;ENSP00000423672:R656T;ENSP00000421097:R633T;ENSP00000422661:R236T	ENSP00000274364:R683T	R	+	2	0	IQGAP2	75972638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.008000	0.63991	2.878000	0.98634	0.650000	0.86243	AGA		0.408	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		6	34	0	0	0	1	0	6	34				
TMC4	147798	broad.mit.edu	37	19	54668242	54668242	+	Missense_Mutation	SNP	G	G	C	rs140280199		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:54668242G>C	ENST00000376591.4	-	7	1188	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.L347V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	353					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCACCAGCAGGTTGAGCAGC	0.672																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(1057-1059)Ctg>Gtg		transmembrane channel-like 4							92.0	97.0	95.0					19																	54668242		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54668242G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1057C>G	19.37:g.54668242G>C	ENSP00000365776:p.Leu353Val					TMC4_ENST00000301187.4_Missense_Mutation_p.L347V	p.L353V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			7	1188	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		353					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1057C>G	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529824	0.27387	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.52295	0.67;0.67	4.96	-1.2	0.09554	.	0.169684	0.38897	N	0.001522	T	0.30854	0.0778	L	0.61387	1.9	0.80722	D	1	B;B	0.16802	0.019;0.002	B;B	0.17433	0.018;0.018	T	0.21518	-1.0243	10	0.06757	T	0.87	-6.9094	2.0678	0.03606	0.2192:0.2402:0.4174:0.1232	.	353;347	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	V	347;353	ENSP00000301187:L347V;ENSP00000365776:L353V	ENSP00000301187:L347V	L	-	1	2	TMC4	59360054	1.000000	0.71417	0.977000	0.42913	0.749000	0.42624	0.745000	0.26259	-0.249000	0.09569	-0.140000	0.14226	CTG		0.672	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			28	144	0	0	0	1	0	28	144				
MAN2A1	4124	broad.mit.edu	37	5	109155467	109155467	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:109155467A>G	ENST00000261483.4	+	14	3259	c.2207A>G	c.(2206-2208)tAt>tGt	p.Y736C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	736					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATGTCTTGTATAAGAATAAA	0.328																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2206-2208)tAt>tGt		mannosidase, alpha, class 2A, member 1							80.0	93.0	89.0					5																	109155467		2202	4294	6496	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109155467A>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2207A>G	5.37:g.109155467A>G	ENSP00000261483:p.Tyr736Cys						p.Y736C	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	14	3259	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	736					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2207A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508577	0.44660	.	.	ENSG00000112893	ENST00000261483	D	0.83419	-1.72	5.9	4.73	0.59995	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.413833	0.27437	N	0.019361	D	0.89670	0.6782	M	0.86953	2.85	0.28581	N	0.91015	D	0.55385	0.971	P	0.61874	0.895	D	0.84211	0.0456	10	0.45353	T	0.12	-8.8029	8.1726	0.31264	0.7262:0.1401:0.0:0.1337	.	736	Q16706	MA2A1_HUMAN	C	736	ENSP00000261483:Y736C	ENSP00000261483:Y736C	Y	+	2	0	MAN2A1	109183366	1.000000	0.71417	0.623000	0.29173	0.247000	0.25773	3.135000	0.50546	1.041000	0.40125	0.533000	0.62120	TAT		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			27	127	0	0	0	1	0	27	127				
NPFFR2	10886	broad.mit.edu	37	4	73013431	73013431	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:73013431C>A	ENST00000308744.6	+	4	1569	c.1471C>A	c.(1471-1473)Cat>Aat	p.H491N	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.H389N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.H392N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	491					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.H491D(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCAAAACCCTCATGGGGAAAC	0.378																																						ENST00000308744.6																			1	Substitution - Missense(1)	p.H491D(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1471-1473)Cat>Aat		neuropeptide FF receptor 2							67.0	74.0	71.0					4																	73013431		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013431C>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1471C>A	4.37:g.73013431C>A	ENSP00000307822:p.His491Asn					NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.H389N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.H392N	p.H491N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1569	+			491					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1471C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360008	0.24598	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.71579	-0.58;-0.45;-0.47	4.86	2.13	0.27403	.	1.562670	0.03988	N	0.294448	T	0.55970	0.1954	L	0.36672	1.1	0.09310	N	1	B;B	0.32324	0.083;0.364	B;B	0.24974	0.023;0.057	T	0.34329	-0.9833	10	0.17369	T	0.5	.	4.2179	0.10544	0.2844:0.5006:0.1378:0.0772	.	392;491	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	N	491;392;389	ENSP00000307822:H491N;ENSP00000379321:H392N;ENSP00000351599:H389N	ENSP00000307822:H491N	H	+	1	0	NPFFR2	73232295	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.091000	0.15046	0.233000	0.21120	0.563000	0.77884	CAT		0.378	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		98	64	1	0	3.53432e-41	1	3.99532e-41	98	64				
ICAM3	3385	broad.mit.edu	37	19	10444069	10444069	+	IGR	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:10444069G>A	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Silent_p.L56L	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCTGGATCTAGAGGCGGCAGC	0.667																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(166-168)Cta>Tta		ribonucleoprotein, PTB-binding 1							47.0	56.0	53.0					19																	10444069		1842	4077	5919	SO:0001628	intergenic_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10444069G>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444069G>A							p.L56L	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		1	247	-			39					Q6PD68	Silent	SNP	ENST00000160262.5	37	c.166C>T	CCDS12235.1																																																																																				0.667	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			6	73	0	0	0	1	0	6	73				
ZFYVE20	64145	broad.mit.edu	37	3	15116352	15116352	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:15116352C>T	ENST00000253699.3	-	14	1905	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R431H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	431	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGGCCCCTGCGGAGAGATGC	0.657																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1291-1293)cGc>cAc		zinc finger, FYVE domain containing 20							40.0	41.0	41.0					3																	15116352		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15116352C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1292G>A	3.37:g.15116352C>T	ENSP00000253699:p.Arg431His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R431H	p.R431H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	1905	-			431			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1292G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	8.908	0.958025	0.18507	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.53640	0.61;0.61	5.35	-1.72	0.08107	.	1.051250	0.07408	N	0.891999	T	0.38241	0.1033	L	0.47716	1.5	0.19575	N	0.999962	B	0.11235	0.004	B	0.04013	0.001	T	0.37407	-0.9707	10	0.48119	T	0.1	-0.3343	7.4571	0.27272	0.0:0.4237:0.1148:0.4614	.	431	Q9H1K0	RBNS5_HUMAN	H	431	ENSP00000253699:R431H;ENSP00000422551:R431H	ENSP00000253699:R431H	R	-	2	0	ZFYVE20	15091356	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.062000	0.11674	-0.238000	0.09724	-0.339000	0.08088	CGC		0.657	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		13	37	0	0	0	1	0	13	37				
ZNF420	147923	broad.mit.edu	37	19	37618875	37618875	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:37618875A>G	ENST00000337995.3	+	5	1197	c.982A>G	c.(982-984)Att>Gtt	p.I328V	ZNF420_ENST00000304239.7_Missense_Mutation_p.I328V|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	328					regulation of transcription, DNA-templated (GO:0006355)|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(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATCAGAAAATTCATAATGG	0.388																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(982-984)Att>Gtt		zinc finger protein 420							56.0	60.0	59.0					19																	37618875		2202	4298	6500	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618875A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.982A>G	19.37:g.37618875A>G	ENSP00000338770:p.Ile328Val					ZNF420_ENST00000304239.7_Missense_Mutation_p.I328V|ZNF585A_ENST00000588723.1_Intron	p.I328V	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1197	+			328					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.982A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	8.509	0.866157	0.17250	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.06294	3.32;3.32	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	N	0.04705	-0.18	0.80722	D	1	P	0.37061	0.58	B	0.38616	0.277	T	0.53005	-0.8499	9	0.45353	T	0.12	.	6.486	0.22089	0.7835:0.0:0.0:0.2165	.	328	Q8TAQ5	ZN420_HUMAN	V	328	ENSP00000306102:I328V;ENSP00000338770:I328V	ENSP00000306102:I328V	I	+	1	0	ZNF420	42310715	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.937000	0.28951	1.620000	0.50308	0.533000	0.62120	ATT		0.388	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		41	70	0	0	0	1	0	41	70				
SYPL1	6856	broad.mit.edu	37	7	105733542	105733542	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:105733542C>T	ENST00000011473.2	-	5	544	c.498G>A	c.(496-498)gtG>gtA	p.V166V	SYPL1_ENST00000470347.1_Silent_p.V148V|SYPL1_ENST00000455385.2_Silent_p.V148V	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	166	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CTGAAGTGCTCACCAACCACA	0.343																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(442-444)gtG>gtA		synaptophysin-like 1							53.0	47.0	49.0					7																	105733542		2203	4300	6503	SO:0001819	synonymous_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105733542C>T		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.498G>A	7.37:g.105733542C>T						SYPL1_ENST00000470347.1_Silent_p.V148V|SYPL1_ENST00000011473.2_Silent_p.V166V	p.V148V	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			4	566	-			166			MARVEL.		A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	37	c.444G>A	CCDS5736.1																																																																																				0.343	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			9	23	0	0	0	1	0	9	23				
PCDHB1	29930	broad.mit.edu	37	5	140432443	140432443	+	Missense_Mutation	SNP	A	A	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140432443A>C	ENST00000306549.3	+	1	1465	c.1388A>C	c.(1387-1389)gAa>gCa	p.E463A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	463	Cadherin 5. {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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTTCGAGAAAACAACAGT	0.418																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1387-1389)gAa>gCa									76.0	74.0	75.0					5																	140432443		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432443A>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1388A>C	5.37:g.140432443A>C	ENSP00000307234:p.Glu463Ala						p.E463A	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1465	+			463			Cadherin 5.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1388A>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761224	0.69763	.	.	ENSG00000171815	ENST00000306549	T	0.76316	-1.01	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.45606	D	0.000356	D	0.93976	0.8071	H	0.99770	4.765	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	10	0.87932	D	0	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	463	Q9Y5F3	PCDB1_HUMAN	A	463	ENSP00000307234:E463A	ENSP00000307234:E463A	E	+	2	0	PCDHB1	140412627	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.248000	0.95456	2.371000	0.80710	0.533000	0.62120	GAA		0.418	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		25	83	0	0	0	1	0	25	83				
ADCY9	115	broad.mit.edu	37	16	4042260	4042260	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:4042260C>G	ENST00000294016.3	-	5	2632	c.2094G>C	c.(2092-2094)gaG>gaC	p.E698D	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	698					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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTTCCCTTCTCCTGCAAGA	0.567																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2092-2094)gaG>gaC		adenylate cyclase 9							96.0	86.0	89.0					16																	4042260		2197	4300	6497	SO:0001583	missense	115				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	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042260C>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2094G>C	16.37:g.4042260C>G	ENSP00000294016:p.Glu698Asp					ADCY9_ENST00000571889.1_5'UTR	p.E698D	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			5	2632	-			698					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2094G>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328906	0.81690	.	.	ENSG00000162104	ENST00000294016	D	0.83914	-1.78	5.28	-6.14	0.02111	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	L	0.40543	1.245	0.41370	D	0.987488	D	0.57257	0.979	P	0.48552	0.581	T	0.78730	-0.2090	10	0.46703	T	0.11	.	20.0158	0.97477	0.0:0.8571:0.0:0.1429	.	698	O60503	ADCY9_HUMAN	D	698	ENSP00000294016:E698D	ENSP00000294016:E698D	E	-	3	2	ADCY9	3982261	1.000000	0.71417	0.958000	0.39756	0.974000	0.67602	0.866000	0.27954	-1.038000	0.03279	-0.323000	0.08544	GAG		0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			9	76	0	0	0	1	0	9	76				
ATP13A4	84239	broad.mit.edu	37	3	193232601	193232601	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:193232601G>C	ENST00000342695.4	-	2	442	c.120C>G	c.(118-120)atC>atG	p.I40M	ATP13A4_ENST00000392443.3_Missense_Mutation_p.I40M|ATP13A4_ENST00000295548.3_Missense_Mutation_p.I40M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	40						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAATGAGAAGATGGATCCGG	0.478																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(118-120)atC>atG		ATPase type 13A4							116.0	109.0	111.0					3																	193232601		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193232601G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.120C>G	3.37:g.193232601G>C	ENSP00000339182:p.Ile40Met					ATP13A4_ENST00000295548.3_Missense_Mutation_p.I40M|ATP13A4_ENST00000392443.3_Missense_Mutation_p.I40M	p.I40M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	2	442	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		40					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.120C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338181	0.41398	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.27890	1.64;1.64;1.64	5.63	3.76	0.43208	.	0.203284	0.34531	N	0.003888	T	0.27559	0.0677	L	0.51914	1.62	0.29615	N	0.846629	B;B	0.19445	0.018;0.036	B;B	0.31614	0.05;0.133	T	0.14392	-1.0474	10	0.54805	T	0.06	-7.0221	5.5746	0.17216	0.0836:0.147:0.634:0.1355	.	40;40	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	M	40	ENSP00000376238:I40M;ENSP00000339182:I40M;ENSP00000295548:I40M	ENSP00000295548:I40M	I	-	3	3	ATP13A4	194715295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.218000	0.32467	2.635000	0.89317	0.655000	0.94253	ATC		0.478	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		15	97	0	0	0	1	0	15	97				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	25	0	0	0	1	0	3	25				
VCAN	1462	broad.mit.edu	37	5	82785939	82785939	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:82785939G>A	ENST00000265077.3	+	3	658	c.93G>A	c.(91-93)ccG>ccA	p.P31P	VCAN_ENST00000502527.2_Silent_p.P31P|VCAN_ENST00000343200.5_Silent_p.P31P|VCAN_ENST00000513984.1_Silent_p.P31P|VCAN_ENST00000512590.2_De_novo_Start_InFrame|VCAN_ENST00000342785.4_Silent_p.P31P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	31	Ig-like V-type.				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)	AAAGCCCACCGGTGAGGGGCT	0.408																																						ENST00000512590.2																			0				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								versican							48.0	49.0	49.0					5																	82785939		2201	4290	6491	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82785939G>A	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.93G>A	5.37:g.82785939G>A						VCAN_ENST00000502527.2_Silent_p.P31P|VCAN_ENST00000265077.3_Silent_p.P31P|VCAN_ENST00000342785.4_Silent_p.P31P|VCAN_ENST00000343200.5_Silent_p.P31P|VCAN_ENST00000513984.1_Silent_p.P31P				P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	0	359	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)						P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Translation_Start_Site	SNP	ENST00000265077.3	37		CCDS4060.1																																																																																				0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	56	0	0	0	1	0	12	56				
OR52N5	390075	broad.mit.edu	37	11	5799213	5799213	+	Missense_Mutation	SNP	A	A	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:5799213A>T	ENST00000317093.2	-	1	684	c.652T>A	c.(652-654)Ttt>Att	p.F218I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAAATGTCAAACACTCCAATC	0.453																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(652-654)Ttt>Att		olfactory receptor, family 52, subfamily N, member 5							134.0	119.0	124.0					11																	5799213		2120	4087	6207	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799213A>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.652T>A	11.37:g.5799213A>T	ENSP00000322866:p.Phe218Ile					TRIM5_ENST00000380027.1_Intron	p.F218I	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	684	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	218					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.652T>A	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896982	0.52121	.	.	ENSG00000181009	ENST00000317093	T	0.33216	1.42	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31963	U	0.006788	T	0.38558	0.1045	L	0.48174	1.505	0.31225	N	0.69699	D	0.63046	0.992	P	0.58873	0.847	T	0.34551	-0.9824	10	0.34782	T	0.22	.	8.7844	0.34811	0.81:0.19:0.0:0.0	.	218	Q8NH56	O52N5_HUMAN	I	218	ENSP00000322866:F218I	ENSP00000322866:F218I	F	-	1	0	OR52N5	5755789	0.000000	0.05858	0.991000	0.47740	0.670000	0.39368	-0.332000	0.07904	1.687000	0.51057	0.416000	0.27883	TTT		0.453	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		15	49	0	0	0	1	0	15	49				
HMG20B	10362	broad.mit.edu	37	19	3576599	3576599	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:3576599G>A	ENST00000333651.6	+	7	643	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	190					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTCACTGAAGAGTTCTT	0.582																																						ENST00000333651.6																			0				cervix(1)	1						c.(568-570)Gaa>Aaa		high mobility group 20B							68.0	70.0	70.0					19																	3576599		2014	4163	6177	SO:0001583	missense	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3576599G>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.568G>A	19.37:g.3576599G>A	ENSP00000328269:p.Glu190Lys						p.E190K	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	7	643	+		Hepatocellular(1079;0.137)	190					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	37	c.568G>A	CCDS45919.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936439	0.97122	.	.	ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949	D;T	0.82984	-1.67;-0.51	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	D	0.91348	0.7271	M	0.84326	2.69	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.92103	0.5690	10	0.52906	T	0.07	-21.0286	16.5793	0.84710	0.0:0.0:1.0:0.0	.	190;190	A8K0D5;Q9P0W2	.;HM20B_HUMAN	K	190;190;207	ENSP00000410924:E190K;ENSP00000328269:E190K	ENSP00000262949:E207K	E	+	1	0	HMG20B	3527599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.909000	0.92647	2.261000	0.74972	0.561000	0.74099	GAA		0.582	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339		5	46	0	0	0	1	0	5	46				
ZNF208	7757	broad.mit.edu	37	19	22157097	22157097	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:22157097G>C	ENST00000397126.4	-	4	887	c.739C>G	c.(739-741)Cat>Gat	p.H247D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTACCTTATGTTTAGTAAGG	0.353																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(739-741)Cat>Gat		zinc finger protein 208							36.0	40.0	39.0					19																	22157097		2107	4235	6342	SO:0001583	missense	7757							g.chr19:22157097G>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.739C>G	19.37:g.22157097G>C	ENSP00000380315:p.His247Asp					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.H247D	NM_007153.3	NP_009084.2					4	887	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.739C>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033803	0.35893	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.86769	-2.17	2.93	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91529	0.7325	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.82116	-0.0616	8	0.87932	D	0	.	8.6631	0.34103	0.1255:0.0:0.8745:0.0	.	247	O43345	ZN208_HUMAN	D	247	ENSP00000380315:H247D	ENSP00000380315:H247D	H	-	1	0	ZNF208	21948937	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	4.939000	0.63526	0.214000	0.20742	0.313000	0.20887	CAT		0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		10	49	0	0	0	1	0	10	49				
KLKB1	3818	broad.mit.edu	37	4	187177228	187177228	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:187177228C>A	ENST00000264690.6	+	13	1759	c.1572C>A	c.(1570-1572)ttC>ttA	p.F524L	KLKB1_ENST00000513864.1_Missense_Mutation_p.F524L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	524	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GATGGGGCTTCTCGAAGGAGA	0.388																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1570-1572)ttC>ttA		kallikrein B, plasma (Fletcher factor) 1							62.0	65.0	64.0					4																	187177228		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187177228C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1572C>A	4.37:g.187177228C>A	ENSP00000264690:p.Phe524Leu					KLKB1_ENST00000513864.1_Missense_Mutation_p.F524L	p.F524L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	13	1759	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	524			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1572C>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.04|14.04	2.417988|2.417988	0.42918|0.42918	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.87650|.	-2.28;-2.28|.	5.77|5.77	4.92|4.92	0.64577|0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.624103|.	0.16559|.	N|.	0.209140|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.03029|0.03029	-0.43|-0.43	0.25039|0.25039	N|N	0.99121|0.99121	P;P;P|.	0.42584|.	0.784;0.561;0.784|.	B;B;B|.	0.40982|.	0.22;0.345;0.22|.	T|T	0.12218|0.12218	-1.0556|-1.0556	10|5	0.37606|.	T|.	0.19|.	.|.	14.2108|14.2108	0.65764|0.65764	0.0:0.9274:0.0:0.0726|0.0:0.9274:0.0:0.0726	.|.	486;524;524|.	E7EQA8;A8K9A9;P03952|.	.;.;KLKB1_HUMAN|.	L|Y	524;524;486|572	ENSP00000264690:F524L;ENSP00000424469:F524L|.	ENSP00000264690:F524L|.	F|S	+|+	3|2	2|0	KLKB1|KLKB1	187414222|187414222	0.017000|0.017000	0.18338|0.18338	0.765000|0.765000	0.31456|0.31456	0.472000|0.472000	0.32918|0.32918	1.821000|1.821000	0.39041|0.39041	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.388	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		13	29	1	0	0.0202918	1	0.0204993	13	29				
IFT172	26160	broad.mit.edu	37	2	27676309	27676309	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:27676309C>A	ENST00000260570.3	-	35	3996	c.3893G>T	c.(3892-3894)tGc>tTc	p.C1298F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1298					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTTGAGGTAGCAGTCCACGGC	0.607																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3892-3894)tGc>tTc		intraflagellar transport 172 homolog (Chlamydomonas)							82.0	76.0	78.0					2																	27676309		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27676309C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3893G>T	2.37:g.27676309C>A	ENSP00000260570:p.Cys1298Phe						p.C1298F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			35	3996	-	Acute lymphoblastic leukemia(172;0.155)		1298					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3893G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364755	0.82463	.	.	ENSG00000138002	ENST00000260570	T	0.76578	-1.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.75447	2.3	0.80722	D	1	P	0.42993	0.797	B	0.42214	0.38	D	0.83812	0.0242	10	0.72032	D	0.01	-12.7633	17.4104	0.87484	0.0:1.0:0.0:0.0	.	1298	Q9UG01	IF172_HUMAN	F	1298	ENSP00000260570:C1298F	ENSP00000260570:C1298F	C	-	2	0	IFT172	27529813	1.000000	0.71417	0.999000	0.59377	0.618000	0.37518	3.366000	0.52343	2.461000	0.83175	0.313000	0.20887	TGC		0.607	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		17	77	1	0	1.67942e-08	1	1.82337e-08	17	77				
CADM4	199731	broad.mit.edu	37	19	44127506	44127506	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:44127506C>G	ENST00000222374.2	-	9	1191	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	381					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCTCTTTCCTCTTGTGTCCGT	0.592																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(1141-1143)aaG>aaC		cell adhesion molecule 4							154.0	152.0	153.0					19																	44127506		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44127506C>G	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1143G>C	19.37:g.44127506C>G	ENSP00000222374:p.Lys381Asn						p.K381N	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN			9	1191	-		Prostate(69;0.0199)	381					B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.1143G>C	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870077	0.33069	.	.	ENSG00000105767	ENST00000222374	T	0.60299	0.2	4.56	2.34	0.29019	.	0.068098	0.56097	D	0.000022	T	0.37046	0.0989	N	0.11927	0.2	0.36764	D	0.883462	P	0.47409	0.895	B	0.41332	0.354	T	0.47341	-0.9125	10	0.87932	D	0	.	9.6834	0.40082	0.0:0.8364:0.0:0.1636	.	381	Q8NFZ8	CADM4_HUMAN	N	381	ENSP00000222374:K381N	ENSP00000222374:K381N	K	-	3	2	CADM4	48819346	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.667000	0.54547	0.459000	0.27016	0.460000	0.39030	AAG		0.592	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		35	130	0	0	0	1	0	35	130				
PREX2	80243	broad.mit.edu	37	8	69104621	69104621	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:69104621T>C	ENST00000288368.4	+	37	4742	c.4465T>C	c.(4465-4467)Ttt>Ctt	p.F1489L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1489					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTAGCCTCGTTTATCAGATC	0.483																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4465-4467)Ttt>Ctt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							79.0	67.0	71.0					8																	69104621		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104621T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4465T>C	8.37:g.69104621T>C	ENSP00000288368:p.Phe1489Leu						p.F1489L	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			37	4742	+			1489					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4465T>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695147	0.68386	.	.	ENSG00000046889	ENST00000288368	T	0.56941	0.43	4.89	4.89	0.63831	.	0.124291	0.53938	D	0.000041	T	0.45577	0.1349	L	0.45228	1.405	0.80722	D	1	B	0.24186	0.099	B	0.27715	0.082	T	0.34428	-0.9829	10	0.18710	T	0.47	.	14.8053	0.69948	0.0:0.0:0.0:1.0	.	1489	Q70Z35	PREX2_HUMAN	L	1489	ENSP00000288368:F1489L	ENSP00000288368:F1489L	F	+	1	0	PREX2	69267175	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.542000	0.82095	1.965000	0.57142	0.383000	0.25322	TTT		0.483	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		10	54	0	0	0	1	0	10	54				
CPQ	10404	broad.mit.edu	37	8	98078254	98078254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:98078254C>A	ENST00000220763.5	+	7	1281	c.1071C>A	c.(1069-1071)taC>taA	p.Y357*	CPQ_ENST00000529551.1_3'UTR	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	357					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TTTCCAACTACAGTCTGGTGA	0.443																																						ENST00000220763.5																			0											c.(1069-1071)taC>taA		carboxypeptidase Q							77.0	70.0	72.0					8																	98078254		2203	4300	6503	SO:0001587	stop_gained	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:98078254C>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1071C>A	8.37:g.98078254C>A	ENSP00000220763:p.Tyr357*					CPQ_ENST00000529551.1_3'UTR	p.Y357*	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			7	1281	+			357					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Nonsense_Mutation	SNP	ENST00000220763.5	37	c.1071C>A	CCDS6273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007933|2.007933	0.35415|0.35415	.|.	.|.	ENSG00000104324|ENSG00000104324	ENST00000522617|ENST00000220763	.|.	.|.	.|.	5.39|5.39	0.467|0.467	0.16721|0.16721	.|.	.|0.070539	.|0.56097	.|D	.|0.000031	T|.	0.21387|.	0.0515|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40534|.	-0.9558|.	3|.	.|0.02654	.|T	.|1	-5.3963|-5.3963	9.884|9.884	0.41251|0.41251	0.0:0.507:0.0:0.493|0.0:0.507:0.0:0.493	.|.	.|.	.|.	.|.	K|X	15|357	.|.	.|ENSP00000220763:Y357X	T|Y	+|+	2|3	0|2	AC010859.1|AC010859.1	98147430|98147430	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.036000|0.036000	0.12997|0.12997	0.631000|0.631000	0.24568|0.24568	0.266000|0.266000	0.21894|0.21894	0.591000|0.591000	0.81541|0.81541	ACA|TAC		0.443	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		8	63	1	0	7.48243e-07	1	8.01805e-07	8	63				
FER1L6	654463	broad.mit.edu	37	8	124982286	124982286	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:124982286C>T	ENST00000522917.1	+	6	602	c.396C>T	c.(394-396)ttC>ttT	p.F132F	FER1L6_ENST00000399018.1_Silent_p.F132F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	132	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTTTGTCTTCGACTTCATTG	0.413																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(394-396)ttC>ttT		fer-1-like 6 (C. elegans)							158.0	152.0	154.0					8																	124982286		1860	4102	5962	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:124982286C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.396C>T	8.37:g.124982286C>T						FER1L6_ENST00000399018.1_Silent_p.F132F	p.F132F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		6	602	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		132			C2 1.			Silent	SNP	ENST00000522917.1	37	c.396C>T	CCDS43767.1																																																																																				0.413	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		13	113	0	0	0	1	0	13	113				
SAFB	6294	broad.mit.edu	37	19	5649944	5649944	+	Missense_Mutation	SNP	G	G	A	rs200348280		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:5649944G>A	ENST00000292123.5	+	8	1263	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	SAFB_ENST00000454510.1_Missense_Mutation_p.E317K|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_Missense_Mutation_p.E216K|SAFB_ENST00000588852.1_Missense_Mutation_p.E386K|SAFB_ENST00000592224.1_Missense_Mutation_p.E386K|SAFB_ENST00000538656.1_Missense_Mutation_p.E229K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	386					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAGTTCTCCCGAAGATGACTC	0.498																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(1156-1158)Gaa>Aaa		scaffold attachment factor B							98.0	81.0	86.0					19																	5649944		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5649944G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1156G>A	19.37:g.5649944G>A	ENSP00000292123:p.Glu386Lys					SAFB_ENST00000588852.1_Missense_Mutation_p.E386K|SAFB_ENST00000538656.1_Missense_Mutation_p.E229K|SAFB_ENST00000433404.1_Missense_Mutation_p.E216K|SAFB_ENST00000454510.1_Missense_Mutation_p.E317K|SAFB_ENST00000592224.1_Missense_Mutation_p.E386K|SAFB_ENST00000586934.1_3'UTR	p.E386K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	8	1263	+			386					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.1156G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	4.667	0.124071	0.08931	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.09255	3.06;3.19;3.0;3.0	5.04	3.97	0.46021	Nucleotide-binding, alpha-beta plait (1);	0.367621	0.22643	N	0.057438	T	0.03695	0.0105	N	0.03608	-0.345	0.53005	D	0.99996	P;B;P;B;B;B;B	0.47106	0.825;0.414;0.89;0.196;0.354;0.196;0.354	B;B;B;B;B;B;B	0.35182	0.097;0.037;0.197;0.079;0.079;0.079;0.079	T	0.35968	-0.9767	10	0.02654	T	1	-9.7201	15.2785	0.73760	0.0:0.1411:0.8589:0.0	.	185;229;317;386;386;386;386	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	K	317;281;216;386;229	ENSP00000415895:E317K;ENSP00000404545:E216K;ENSP00000292123:E386K;ENSP00000438880:E229K	ENSP00000292123:E386K	E	+	1	0	SAFB	5600944	1.000000	0.71417	0.989000	0.46669	0.837000	0.47467	4.155000	0.58131	1.213000	0.43380	0.563000	0.77884	GAA		0.498	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			7	54	0	0	0	1	0	7	54				
SNHG14	104472715	broad.mit.edu	37	15	25479306	25479306	+	RNA	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:25479306C>A	ENST00000453082.2	+	0	1847				SNORD115-36_ENST00000365629.1_RNA|SNORD115-34_ENST00000362441.1_RNA|SNORD115-35_ENST00000365122.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGACCCTTCCTGACTCCGTG	0.607																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25479306C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25479306C>A								NR_003343.1						0	1847	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			13	70	1	0	5.50884e-06	1	5.82734e-06	13	70				
MYO1H	283446	broad.mit.edu	37	12	109838970	109838970	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:109838970G>C	ENST00000431443.2	+	5	595	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	MYO1H_ENST00000310903.5_Missense_Mutation_p.E199Q	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	199	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACGAAGGCGAGCGGAATTT	0.507																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(595-597)Gag>Cag		myosin IH							59.0	64.0	62.0					12																	109838970		2066	4206	6272	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109838970G>C		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.595G>C	12.37:g.109838970G>C	ENSP00000444076:p.Glu199Gln					MYO1H_ENST00000431443.2_Missense_Mutation_p.E199Q	p.E199Q			B4DNW6	B4DNW6_HUMAN			6	701	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.595G>C		.	.	.	.	.	.	.	.	.	.	G	18.19	3.569812	0.65765	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.81415	-1.49;-1.49	4.5	4.5	0.54988	.	.	.	.	.	D	0.94460	0.8217	H	0.99582	4.64	0.49687	D	0.999814	D	0.89917	1.0	D	0.97110	1.0	D	0.97189	0.9856	9	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:1.0:0.0	.	199	F5H3C6	.	Q	199	ENSP00000439182:E199Q;ENSP00000444076:E199Q	ENSP00000439182:E199Q	E	+	1	0	MYO1H	108323353	1.000000	0.71417	0.891000	0.34965	0.114000	0.19823	9.597000	0.98273	2.217000	0.71921	0.650000	0.86243	GAG		0.507	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		7	33	0	0	0	1	0	7	33				
CLIP3	25999	broad.mit.edu	37	19	36508835	36508835	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:36508835G>C	ENST00000360535.4	-	10	1469	c.1242C>G	c.(1240-1242)gcC>gcG	p.A414A	CLIP3_ENST00000593074.1_Silent_p.A414A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	414					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTCAGCCTTGGCCCCGTCAC	0.612																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1240-1242)gcC>gcG		CAP-GLY domain containing linker protein 3							81.0	77.0	78.0					19																	36508835		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508835G>C	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1242C>G	19.37:g.36508835G>C						AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.A414A	p.A414A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1469	-	Esophageal squamous(110;0.162)		414					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.1242C>G	CCDS12486.1																																																																																				0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		8	71	0	0	0	1	0	8	71				
B2M	567	broad.mit.edu	37	15	45007842	45007842	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:45007842G>A	ENST00000558401.1	+	2	359	c.289G>A	c.(289-291)Gag>Aag	p.E97K	B2M_ENST00000559916.1_Missense_Mutation_p.E97K|B2M_ENST00000544417.1_Missense_Mutation_p.E97K|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	97	Ig-like C1-type.				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 exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|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 T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E97K(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAAAAAGATGAGTATGCCTG	0.418																																						ENST00000558401.1																			1	Substitution - Missense(1)	p.E97K(1)	breast(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(289-291)Gag>Aag		beta-2-microglobulin							141.0	136.0	137.0					15																	45007842		2198	4298	6496	SO:0001583	missense	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007842G>A	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.289G>A	15.37:g.45007842G>A	ENSP00000452780:p.Glu97Lys					B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E97K|B2M_ENST00000544417.1_Missense_Mutation_p.E97K	p.E97K	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	359	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	97			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	c.289G>A	CCDS10113.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.80|12.80	2.045749|2.045749	0.36085|0.36085	.|.	.|.	ENSG00000166710|ENSG00000166710	ENST00000349264;ENST00000544417|ENST00000396754	T|.	0.02863|.	4.13|.	5.82|5.82	-2.84|-2.84	0.05751|0.05751	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	2.069020|.	0.01527|.	N|.	0.018631|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.25825|0.25825	0.765|0.765	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.013;0.001|.	B;B|.	0.21360|.	0.034;0.004|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|6	0.35671|0.87932	T|D	0.21|0	.|.	1.1708|1.1708	0.01825|0.01825	0.3457:0.2521:0.2733:0.1289|0.3457:0.2521:0.2733:0.1289	.|.	97;97|.	F5H6I0;P61769|.	.;B2MG_HUMAN|.	K|I	97|96	ENSP00000437604:E97K|.	ENSP00000340858:E97K|ENSP00000379978:M96I	E|M	+|+	1|3	0|0	B2M|B2M	42795134|42795134	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.976000|-0.976000	0.03786|0.03786	-0.565000|-0.565000	0.06061|0.06061	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		26	80	0	0	0	1	0	26	80				
PROS1	5627	broad.mit.edu	37	3	93593126	93593126	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:93593126G>A	ENST00000394236.3	-	15	2310	c.1994C>T	c.(1993-1995)tCa>tTa	p.S665L	PROS1_ENST00000407433.1_Missense_Mutation_p.S534L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	665	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		S -> L (in THPH5). {ECO:0000269|PubMed:8781426}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGATGGACATGAGTGAGCTCT	0.333																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CM961195|CM992962	PROS1	M		c.(1993-1995)tCa>tTa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						92.0	87.0	89.0					3																	93593126		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93593126G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1994C>T	3.37:g.93593126G>A	ENSP00000377783:p.Ser665Leu					PROS1_ENST00000407433.1_Missense_Mutation_p.S534L	p.S665L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			15	2310	-			665		S -> L (in PROS1D).	Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1994C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098258	0.76870	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.80480	-1.38;-1.38	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.061604	0.64402	D	0.000002	D	0.83820	0.5337	M	0.87456	2.885	0.58432	D	0.999995	P	0.37061	0.58	B	0.37601	0.254	D	0.87449	0.2400	10	0.87932	D	0	.	16.3492	0.83195	0.0:0.0:1.0:0.0	.	665	P07225	PROS_HUMAN	L	665;534	ENSP00000377783:S665L;ENSP00000385794:S534L	ENSP00000377783:S665L	S	-	2	0	PROS1	95075816	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	7.943000	0.87716	2.384000	0.81235	0.555000	0.69702	TCA		0.333	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		7	44	0	0	0	1	0	7	44				
OBSL1	23363	broad.mit.edu	37	2	220416900	220416900	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:220416900C>T	ENST00000404537.1	-	19	5403	c.5347G>A	c.(5347-5349)Gag>Aag	p.E1783K	OBSL1_ENST00000373876.1_Missense_Mutation_p.E1691K|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1783					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGCGTCCTCGGCGCGCAGC	0.662																																						ENST00000404537.1																			0											c.(5347-5349)Gag>Aag		obscurin-like 1							15.0	17.0	17.0					2																	220416900		1895	4095	5990	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220416900C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5347G>A	2.37:g.220416900C>T	ENSP00000385636:p.Glu1783Lys					OBSL1_ENST00000373876.1_Missense_Mutation_p.E1691K|OBSL1_ENST00000265318.4_3'UTR	p.E1783K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	19	5403	-		Renal(207;0.0376)	1783					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.5347G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992738	0.54041	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.47528	0.84;0.84	4.76	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62307	0.2417	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55970	-0.8056	9	0.17832	T	0.49	.	15.2908	0.73865	0.0:1.0:0.0:0.0	.	1783	O75147	OBSL1_HUMAN	K	1783;1691	ENSP00000385636:E1783K;ENSP00000362983:E1691K	ENSP00000362983:E1691K	E	-	1	0	OBSL1	220125144	1.000000	0.71417	0.932000	0.37286	0.407000	0.30961	6.393000	0.73217	2.456000	0.83038	0.655000	0.94253	GAG		0.662	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			3	14	0	0	0	1	0	3	14				
ZNF285	26974	broad.mit.edu	37	19	44891323	44891323	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:44891323G>A	ENST00000330997.4	-	4	1148	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.H362Y|ZNF285_ENST00000591679.1_Missense_Mutation_p.H369Y	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTCCCTGATGAATACAAAGA	0.473																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1084-1086)Cat>Tat		zinc finger protein 285							79.0	80.0	80.0					19																	44891323		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891323G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1084C>T	19.37:g.44891323G>A	ENSP00000333595:p.His362Tyr					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.H362Y|ZNF285_ENST00000591679.1_Missense_Mutation_p.H369Y	p.H362Y	NM_152354.3	NP_689567.3					4	1148	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1084C>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829278	0.90955	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	D	0.86769	-2.17	3.5	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94958	0.8369	H	0.94964	3.605	0.32976	D	0.522932	D;D	0.76494	0.999;0.994	D;D	0.75484	0.986;0.976	D	0.96926	0.9677	9	0.87932	D	0	.	14.2191	0.65812	0.0:0.0:1.0:0.0	.	386;362	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Y	385;362	ENSP00000333595:H362Y	ENSP00000333595:H362Y	H	-	1	0	ZNF285	49583163	.	.	0.016000	0.15963	0.977000	0.68977	.	.	1.671000	0.50874	0.454000	0.30748	CAT		0.473	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		12	52	0	0	0	1	0	12	52				
MGAT4A	11320	broad.mit.edu	37	2	99256635	99256635	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:99256635G>A	ENST00000264968.3	-	10	1440	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	MGAT4A_ENST00000409391.1_Silent_p.F359F|MGAT4A_ENST00000414521.2_Silent_p.F231F|MGAT4A_ENST00000393487.1_Silent_p.F359F			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	359					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CAACATGTTGGAAAAGGGAAG	0.333																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1075-1077)ttC>ttT		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							109.0	117.0	114.0					2																	99256635		2203	4300	6503	SO:0001819	synonymous_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99256635G>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1077C>T	2.37:g.99256635G>A						MGAT4A_ENST00000409391.1_Silent_p.F359F|MGAT4A_ENST00000414521.2_Silent_p.F231F|MGAT4A_ENST00000264968.2_Silent_p.F359F	p.F359F	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			11	1390	-			359					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	ENST00000264968.3	37	c.1077C>T	CCDS2036.1																																																																																				0.333	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		5	41	0	0	0	1	0	5	41				
RIN2	54453	broad.mit.edu	37	20	19937259	19937259	+	Splice_Site	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:19937259C>G	ENST00000255006.6	+	4	455	c.306C>G	c.(304-306)agC>agG	p.S102R	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Splice_Site_p.S53R	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	53	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TTTCTCCTAGCATGGTAAGAC	0.557																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.e4-1		Ras and Rab interactor 2							38.0	42.0	41.0					20																	19937259		2056	4191	6247	SO:0001630	splice_region_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19937259C>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.306-1C>G	20.37:g.19937259C>G						RIN2_ENST00000440354.2_Splice_Site_p.S53_splice|RIN2_ENST00000484638.1_3'UTR	p.S102_splice	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			4	455	+			53			SH2.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Splice_Site	SNP	ENST00000255006.6	37	c.305_splice	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256760	0.22965	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06449	3.3;3.3	5.25	2.8	0.32819	.	1.786980	0.01865	N	0.036846	T	0.06826	0.0174	L	0.29908	0.895	0.24920	N	0.991984	P;B	0.37330	0.59;0.001	B;B	0.37144	0.242;0.003	T	0.20273	-1.0280	9	.	.	.	.	7.0691	0.25169	0.1682:0.6898:0.0:0.142	.	53;53	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	R	102;53	ENSP00000255006:S102R;ENSP00000391239:S53R	.	S	+	3	2	RIN2	19885259	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	1.078000	0.30754	2.464000	0.83262	0.561000	0.74099	AGC		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1		Missense_Mutation	5	19	0	0	0	1	0	5	19				
FRMD6	122786	broad.mit.edu	37	14	52188791	52188791	+	Silent	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:52188791A>G	ENST00000344768.5	+	12	1681	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000356218.4_Silent_p.G487G|FRMD6_ENST00000553556.1_Silent_p.G137G|FRMD6_ENST00000395718.2_Silent_p.G487G|FRMD6_ENST00000554167.1_Silent_p.G418G			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	495					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G487G(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGCTGAATGGACACTCTGGTG	0.507																																						ENST00000395718.2																			1	Substitution - coding silent(1)	p.G487G(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1459-1461)ggA>ggG		FERM domain containing 6							94.0	90.0	92.0					14																	52188791		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188791A>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1485A>G	14.37:g.52188791A>G						FRMD6_ENST00000553556.1_Silent_p.G137G|FRMD6_ENST00000356218.4_Silent_p.G487G|FRMD6_ENST00000344768.5_Silent_p.G495G|FRMD6_ENST00000554167.1_Silent_p.G418G	p.G487G	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1746	+	all_epithelial(31;0.0163)|Breast(41;0.089)		495					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1461A>G	CCDS58318.1																																																																																				0.507	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		3	54	0	0	0	1	0	3	54				
LAD1	3898	broad.mit.edu	37	1	201355802	201355802	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:201355802C>T	ENST00000391967.2	-	3	988	c.687G>A	c.(685-687)aaG>aaA	p.K229K	LAD1_ENST00000367313.3_Silent_p.K243K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	229	8 X SEK repeats.					basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GAACAGACTTCTTCTCTGAGC	0.493																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(685-687)aaG>aaA		ladinin 1							99.0	108.0	105.0					1																	201355802		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201355802C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.687G>A	1.37:g.201355802C>T						LAD1_ENST00000367313.3_Silent_p.K243K	p.K229K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	988	-			229			8 X SEK repeats.		O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.687G>A	CCDS1410.1																																																																																				0.493	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		29	229	0	0	0	1	0	29	229				
DGKI	9162	broad.mit.edu	37	7	137154323	137154323	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:137154323G>A	ENST00000288490.5	-	25	2470	c.2470C>T	c.(2470-2472)Ctc>Ttc	p.L824F	DGKI_ENST00000446122.1_Missense_Mutation_p.L806F|DGKI_ENST00000424189.2_Missense_Mutation_p.L827F|DGKI_ENST00000453654.2_Missense_Mutation_p.L524F	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	824					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CGAGGAGAGAGCCTCTGTGCT	0.527																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1570-1572)Ctc>Ttc		diacylglycerol kinase, iota							133.0	118.0	123.0					7																	137154323		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137154323G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2470C>T	7.37:g.137154323G>A	ENSP00000288490:p.Leu824Phe					DGKI_ENST00000424189.2_Missense_Mutation_p.L827F|DGKI_ENST00000288490.5_Missense_Mutation_p.L824F|DGKI_ENST00000446122.1_Missense_Mutation_p.L806F	p.L524F			O75912	DGKI_HUMAN			25	2109	-			824					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1570C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492348	0.84962	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.39592	1.2;1.07;1.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.982;0.994	T	0.53136	-0.8481	10	0.02654	T	1	.	19.7329	0.96190	0.0:0.0:1.0:0.0	.	524;824	E9PFX6;O75912	.;DGKI_HUMAN	F	524;772;827;824;806	ENSP00000392161:L524F;ENSP00000288490:L824F;ENSP00000399131:L806F	ENSP00000288490:L824F	L	-	1	0	DGKI	136804863	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.198000	0.77823	2.663000	0.90544	0.655000	0.94253	CTC		0.527	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		7	34	0	0	0	1	0	7	34				
TUBB8	347688	broad.mit.edu	37	10	93825	93825	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:93825G>C	ENST00000309812.4	-	4	569	c.507C>G	c.(505-507)atC>atG	p.I169M	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.I97M	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	169					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCGAGGGCAGGATGCTGAATG	0.577																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(289-291)atC>atG		tubulin, beta 8 class VIII							92.0	83.0	86.0					10																	93825		2201	4297	6498	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93825G>C	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.507C>G	10.37:g.93825G>C	ENSP00000311042:p.Ile169Met					TUBB8_ENST00000309812.4_Missense_Mutation_p.I169M|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	p.I97M			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	606	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	169					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.291C>G	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714466	0.30413	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.72725	-0.68	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.100282	0.38605	U	0.001636	T	0.79221	0.4409	M	0.84846	2.72	0.24473	N	0.99439	P;P	0.51933	0.624;0.949	B;D	0.62955	0.406;0.909	T	0.68503	-0.5391	9	0.87932	D	0	.	3.6382	0.08157	2.0E-4:0.4947:0.5049:2.0E-4	.	132;169	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	M	97;135;132;169	ENSP00000403895:I97M	ENSP00000272035:I135M	I	-	3	3	RP11-631M21.2	83825	0.009000	0.17119	0.616000	0.29078	0.619000	0.37552	-1.033000	0.03571	0.119000	0.18210	0.121000	0.15741	ATC		0.577	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		7	237	0	0	0	1	0	7	237				
USP1	7398	broad.mit.edu	37	1	62915974	62915974	+	Silent	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:62915974T>A	ENST00000339950.4	+	9	2495	c.1680T>A	c.(1678-1680)ctT>ctA	p.L560L	USP1_ENST00000371146.1_Silent_p.L560L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	560	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGACACCTCTTAAATTGTCAC	0.388																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1678-1680)ctT>ctA		ubiquitin specific peptidase 1							116.0	106.0	110.0					1																	62915974		2203	4300	6503	SO:0001819	synonymous_variant	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62915974T>A		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1680T>A	1.37:g.62915974T>A						USP1_ENST00000371146.1_Silent_p.L560L	p.L560L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2495	+		all_neural(321;0.0281)	560					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Silent	SNP	ENST00000339950.4	37	c.1680T>A	CCDS621.1																																																																																				0.388	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		34	84	0	0	0	1	0	34	84				
NR1H3	10062	broad.mit.edu	37	11	47290154	47290154	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:47290154G>C	ENST00000467728.1	+	9	2489	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	NR1H3_ENST00000405853.3_Silent_p.L357L|MADD_ENST00000395344.3_5'Flank|MADD_ENST00000402799.1_5'Flank|MADD_ENST00000406482.1_5'Flank|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000342922.4_5'Flank|MADD_ENST00000402192.2_5'Flank|NR1H3_ENST00000395397.3_Silent_p.L372L|NR1H3_ENST00000527949.1_Silent_p.L266L|MADD_ENST00000407859.3_5'Flank|MADD_ENST00000395336.3_5'Flank|MADD_ENST00000349238.3_5'Flank|MADD_ENST00000311027.5_5'Flank|NR1H3_ENST00000441012.2_Silent_p.L417L|NR1H3_ENST00000529540.1_3'UTR|RP11-17G12.3_ENST00000543925.1_RNA|NR1H3_ENST00000481889.2_Silent_p.L436L|NR1H3_ENST00000405576.1_Silent_p.L312L|NR1H3_ENST00000407404.1_Silent_p.L357L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	417	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCCGGACCCTGAGCAGCGTCC	0.552																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(1249-1251)ctG>ctC		nuclear receptor subfamily 1, group H, member 3							125.0	116.0	119.0					11																	47290154		2201	4298	6499	SO:0001819	synonymous_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47290154G>C	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.1251G>C	11.37:g.47290154G>C						NR1H3_ENST00000405853.3_Silent_p.L357L|NR1H3_ENST00000527949.1_Silent_p.L266L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Silent_p.L312L|NR1H3_ENST00000441012.2_Silent_p.L417L|NR1H3_ENST00000407404.1_Silent_p.L357L|NR1H3_ENST00000395397.3_Silent_p.L372L|NR1H3_ENST00000481889.2_Silent_p.L436L	p.L417L			Q13133	NR1H3_HUMAN			9	2489	+			417			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	c.1251G>C	CCDS7929.1																																																																																				0.552	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			10	94	0	0	0	1	0	10	94				
RNF103	7844	broad.mit.edu	37	2	86832164	86832164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:86832164G>C	ENST00000237455.4	-	4	1828	c.860C>G	c.(859-861)tCa>tGa	p.S287*	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	287				S -> P (in Ref. 3; BAG36861). {ECO:0000305}.	central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AAGTATGTATGATGGCATATT	0.338																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(859-861)tCa>tGa		ring finger protein 103							52.0	55.0	54.0					2																	86832164		2203	4300	6503	SO:0001587	stop_gained	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832164G>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.860C>G	2.37:g.86832164G>C	ENSP00000237455:p.Ser287*					AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR	p.S287*	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	1828	-			287					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Nonsense_Mutation	SNP	ENST00000237455.4	37	c.860C>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	44	11.131993	0.99520	.	.	ENSG00000239305	ENST00000237455	.	.	.	5.31	5.31	0.75309	.	0.062511	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4912	18.9667	0.92700	0.0:0.0:1.0:0.0	.	.	.	.	X	287	.	ENSP00000237455:S287X	S	-	2	0	RNF103	86685675	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	9.458000	0.97634	2.503000	0.84419	0.460000	0.39030	TCA		0.338	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		5	60	0	0	0	1	0	5	60				
KDM1A	23028	broad.mit.edu	37	1	23399802	23399802	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:23399802C>G	ENST00000356634.3	+	13	1717	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	KDM1A_ENST00000542151.1_Nonsense_Mutation_p.S547*|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Nonsense_Mutation_p.S547*	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	523	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TATCTCTCATCAAGAGACAGA	0.388																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1639-1641)tCa>tGa		lysine (K)-specific demethylase 1A							145.0	148.0	147.0					1																	23399802		2203	4300	6503	SO:0001587	stop_gained	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23399802C>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1568C>G	1.37:g.23399802C>G	ENSP00000349049:p.Ser523*					RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Nonsense_Mutation_p.S523*|KDM1A_ENST00000542151.1_Nonsense_Mutation_p.S547*	p.S547*	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			15	1744	+			523			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Nonsense_Mutation	SNP	ENST00000356634.3	37	c.1640C>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	40	8.055075	0.98632	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	.	.	.	5.35	5.35	0.76521	.	0.456433	0.24211	N	0.040539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.4491	18.0357	0.89302	0.0:1.0:0.0:0.0	.	.	.	.	X	523;547;547	.	ENSP00000349049:S523X	S	+	2	0	KDM1A	23272389	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.649000	0.83500	2.516000	0.84829	0.655000	0.94253	TCA		0.388	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		14	106	0	0	0	1	0	14	106				
DYNC1LI2	1783	broad.mit.edu	37	16	66776474	66776474	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:66776474G>A	ENST00000258198.2	-	4	602	c.396C>T	c.(394-396)ctC>ctT	p.L132L	DYNC1LI2_ENST00000440564.2_Silent_p.L93L|DYNC1LI2_ENST00000443351.2_Intron|DYNC1LI2_ENST00000379482.2_Silent_p.L132L	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	132					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CAAAAATGACGAGGGTCTCTG	0.453																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(394-396)ctC>ctT		dynein, cytoplasmic 1, light intermediate chain 2							104.0	100.0	101.0					16																	66776474		2200	4300	6500	SO:0001819	synonymous_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66776474G>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.396C>T	16.37:g.66776474G>A						DYNC1LI2_ENST00000443351.2_Intron|DYNC1LI2_ENST00000440564.2_Silent_p.L93L|DYNC1LI2_ENST00000379482.2_Silent_p.L132L	p.L132L	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	4	602	-		Ovarian(137;0.0563)	132					A8K6V1|B4DZP4|Q8TAT3	Silent	SNP	ENST00000258198.2	37	c.396C>T	CCDS10818.1																																																																																				0.453	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		18	86	0	0	0	1	0	18	86				
HOXB8	3218	broad.mit.edu	37	17	46690726	46690726	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:46690726G>C	ENST00000239144.4	-	2	804	c.570C>G	c.(568-570)gtC>gtG	p.V190V	HOXB8_ENST00000576562.1_Silent_p.V189V|HOXB7_ENST00000567101.2_Intron|HOXB7_ENST00000239165.7_5'Flank	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	190					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						ACCAGATTTTGACCTGTCTCT	0.507																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(568-570)gtC>gtG		homeobox B8							117.0	109.0	112.0					17																	46690726		2203	4300	6503	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690726G>C		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.570C>G	17.37:g.46690726G>C						HOXB8_ENST00000576562.1_Silent_p.V189V|HOXB7_ENST00000567101.1_Intron	p.V190V	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			2	804	-			190					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.570C>G	CCDS11533.1																																																																																				0.507	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			14	100	0	0	0	1	0	14	100				
COL6A3	1293	broad.mit.edu	37	2	238253245	238253245	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:238253245C>T	ENST00000295550.4	-	36	7868	c.7416G>A	c.(7414-7416)aaG>aaA	p.K2472K	COL6A3_ENST00000472056.1_Silent_p.K1865K|COL6A3_ENST00000353578.4_Silent_p.K2266K|COL6A3_ENST00000409809.1_Silent_p.K2266K|COL6A3_ENST00000346358.4_Silent_p.K2272K|COL6A3_ENST00000347401.3_Silent_p.K2271K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2472	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTTCTTAATCTTGTCCAGGA	0.562																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7414-7416)aaG>aaA		collagen, type VI, alpha 3							68.0	63.0	65.0					2																	238253245		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253245C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7416G>A	2.37:g.238253245C>T						COL6A3_ENST00000353578.4_Silent_p.K2266K|COL6A3_ENST00000409809.1_Silent_p.K2266K|COL6A3_ENST00000472056.1_Silent_p.K1865K|COL6A3_ENST00000347401.3_Silent_p.K2271K|COL6A3_ENST00000346358.4_Silent_p.K2272K	p.K2472K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7868	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2472			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.7416G>A	CCDS33412.1																																																																																				0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		8	73	0	0	0	1	0	8	73				
PCDHA12	56137	broad.mit.edu	37	5	140256172	140256172	+	Missense_Mutation	SNP	T	T	G	rs201129017		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140256172T>G	ENST00000398631.2	+	1	1115	c.1115T>G	c.(1114-1116)aTt>aGt	p.I372S	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCCTGATTAGCGTGTCG	0.507																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1114-1116)aTt>aGt									114.0	112.0	112.0					5																	140256172		2203	4300	6503	SO:0001583	missense	56137							g.chr5:140256172T>G	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1115T>G	5.37:g.140256172T>G	ENSP00000381628:p.Ile372Ser					PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.I372S	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1115	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1115T>G	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851972	0.32699	.	.	ENSG00000251664	ENST00000398631	T	0.54279	0.58	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76695	0.4023	M	0.88775	2.98	0.09310	N	0.999993	D;D	0.71674	0.997;0.998	D;D	0.80764	0.969;0.994	T	0.70382	-0.4887	9	0.87932	D	0	.	14.5909	0.68365	0.0:0.0:0.0:1.0	.	372;372	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	372	ENSP00000381628:I372S	ENSP00000381628:I372S	I	+	2	0	PCDHA12	140236356	0.692000	0.27719	0.011000	0.14972	0.019000	0.09904	4.705000	0.61838	1.907000	0.55213	0.533000	0.62120	ATT		0.507	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		18	104	0	0	0	1	0	18	104				
TG	7038	broad.mit.edu	37	8	133925338	133925338	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:133925338G>A	ENST00000220616.4	+	20	4246	c.4206G>A	c.(4204-4206)ctG>ctA	p.L1402L	TG_ENST00000377869.1_Silent_p.L1402L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1402					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCACAGATCTGATCCAGAGTG	0.562																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4204-4206)ctG>ctA		thyroglobulin							105.0	90.0	95.0					8																	133925338		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925338G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4206G>A	8.37:g.133925338G>A						TG_ENST00000377869.1_Silent_p.L1402L	p.L1402L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4246	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1402					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4206G>A	CCDS34944.1																																																																																				0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		12	57	0	0	0	1	0	12	57				
GPR158	57512	broad.mit.edu	37	10	25464361	25464361	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:25464361G>A	ENST00000376351.3	+	1	371	c.12G>A	c.(10-12)atG>atA	p.M4I	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	4					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGAGCCATGGCTTACCCCT	0.572																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(10-12)atG>atA		G protein-coupled receptor 158							31.0	35.0	34.0					10																	25464361		2198	4292	6490	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464361G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.12G>A	10.37:g.25464361G>A	ENSP00000365529:p.Met4Ile					GPR158-AS1_ENST00000449643.1_RNA	p.M4I	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	371	+			4					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.12G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821550	0.50633	.	.	ENSG00000151025	ENST00000376351	T	0.60920	0.15	4.95	4.95	0.65309	.	0.100401	0.40469	N	0.001087	T	0.50531	0.1621	L	0.44542	1.39	0.39984	D	0.974957	B	0.27498	0.18	B	0.21546	0.035	T	0.50398	-0.8833	10	0.34782	T	0.22	.	17.1142	0.86684	0.0:0.0:1.0:0.0	.	4	Q5T848	GP158_HUMAN	I	4	ENSP00000365529:M4I	ENSP00000365529:M4I	M	+	3	0	GPR158	25504367	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.938000	0.87678	2.462000	0.83206	0.467000	0.42956	ATG		0.572	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		11	65	0	0	0	1	0	11	65				
LHFPL1	340596	broad.mit.edu	37	X	111914334	111914334	+	Silent	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrX:111914334C>A	ENST00000371968.3	-	2	524	c.285G>T	c.(283-285)ctG>ctT	p.L95L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L95L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	95						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CCACCAGGAGCAGCAGAGCAC	0.582																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(283-285)ctG>ctT		lipoma HMGIC fusion partner-like 1							84.0	68.0	74.0					X																	111914334		2203	4300	6503	SO:0001819	synonymous_variant	340596					integral to membrane		g.chrX:111914334C>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.285G>T	X.37:g.111914334C>A						LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L95L	p.L95L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	524	-			95					A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP	ENST00000371968.3	37	c.285G>T	CCDS14562.1																																																																																				0.582	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		9	45	1	0	3.09899e-07	1	3.33529e-07	9	45				
OR2T27	403239	broad.mit.edu	37	1	248814164	248814164	+	Missense_Mutation	SNP	C	C	T	rs144642254	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:248814164C>T	ENST00000344889.3	-	1	21	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCATACACGGAATAATTG	0.433													C|||	2	0.000399361	0.0008	0.0	5008	,	,		27223	0.0		0.001	False		,,,				2504	0.0					ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(22-24)Gtg>Atg		olfactory receptor, family 2, subfamily T, member 27		C	MET/VAL	1,4401		0,1,2200	59.0	53.0	55.0		22	-1.2	0.1	1	dbSNP_134	55	2,8560		0,2,4279	no	missense	OR2T27	NM_001001824.1	21	0,3,6479	TT,TC,CC		0.0234,0.0227,0.0231	benign	8/318	248814164	3,12961	2201	4281	6482	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814164C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.22G>A	1.37:g.248814164C>T	ENSP00000342008:p.Val8Met						p.V8M	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	21	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	8						Missense_Mutation	SNP	ENST00000344889.3	37	c.22G>A	CCDS31124.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.096	-1.159772	0.01686	2.27E-4	2.34E-4	ENSG00000187701	ENST00000344889	T	0.20069	2.1	2.67	-1.21	0.09524	.	0.511458	0.16445	N	0.214124	T	0.09598	0.0236	N	0.16833	0.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21280	-1.0250	10	0.33940	T	0.23	.	4.2872	0.10860	0.0:0.3486:0.1812:0.4702	.	8	Q8NH04	O2T27_HUMAN	M	8	ENSP00000342008:V8M	ENSP00000342008:V8M	V	-	1	0	OR2T27	246880787	0.000000	0.05858	0.068000	0.19968	0.047000	0.14425	-0.019000	0.12546	-0.254000	0.09500	0.194000	0.17425	GTG		0.433	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		3	42	0	0	0	1	0	3	42				
MORF4L1	10933	broad.mit.edu	37	15	79183867	79183867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:79183867C>T	ENST00000331268.5	+	8	712	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	MORF4L1_ENST00000559345.1_Nonsense_Mutation_p.Q43*|MORF4L1_ENST00000426013.2_Nonsense_Mutation_p.Q131*|MORF4L1_ENST00000558502.1_Nonsense_Mutation_p.Q43*|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000379535.4_Nonsense_Mutation_p.Q156*|MORF4L1_ENST00000558746.1_Nonsense_Mutation_p.Q104*	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	170	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TGAGACCCCTCAGCCTCCTCG	0.433																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(508-510)Cag>Tag		mortality factor 4 like 1							61.0	61.0	61.0					15																	79183867		2196	4293	6489	SO:0001587	stop_gained	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79183867C>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.508C>T	15.37:g.79183867C>T	ENSP00000331310:p.Gln170*					MORF4L1_ENST00000426013.2_Nonsense_Mutation_p.Q131*|MORF4L1_ENST00000558746.1_Nonsense_Mutation_p.Q104*|MORF4L1_ENST00000559345.1_Nonsense_Mutation_p.Q43*|MORF4L1_ENST00000558502.1_Nonsense_Mutation_p.Q43*|MORF4L1_ENST00000379535.4_Nonsense_Mutation_p.Q156*|MORF4L1_ENST00000561171.1_Intron	p.Q170*	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			8	712	+			170			Interaction with RB1-1.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Nonsense_Mutation	SNP	ENST00000331268.5	37	c.508C>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	35	5.562364	0.96527	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	.	.	.	4.91	4.91	0.64330	.	0.175118	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-20.547	17.0447	0.86499	0.0:1.0:0.0:0.0	.	.	.	.	X	156;131;170	.	ENSP00000331310:Q170X	Q	+	1	0	MORF4L1	76970922	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.016000	0.76393	2.454000	0.82982	0.561000	0.74099	CAG		0.433	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		12	54	0	0	0	1	0	12	54				
BOLA1	51027	broad.mit.edu	37	1	149871895	149871895	+	Missense_Mutation	SNP	G	G	A	rs371656521		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:149871895G>A	ENST00000369153.2	+	3	947	c.283G>A	c.(283-285)Gag>Aag	p.E95K	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Missense_Mutation_p.E95K|BOLA1_ENST00000369152.5_Missense_Mutation_p.E95K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	95						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCGCTGGCCGAGGAGCTGGG	0.672																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(283-285)Gag>Aag		bolA family member 1		G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	29.0	30.0	30.0		283	4.6	1.0	1		30	0,8598		0,0,4299	no	missense	BOLA1	NM_016074.3	56	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	95/138	149871895	1,13001	2202	4299	6501	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871895G>A	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.283G>A	1.37:g.149871895G>A	ENSP00000358149:p.Glu95Lys					BOLA1_ENST00000369152.5_Missense_Mutation_p.E95K|BOLA1_ENST00000369150.1_Missense_Mutation_p.E95K|BOLA1_ENST00000476344.1_3'UTR	p.E95K			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	947	+	Breast(34;0.0124)|all_hematologic(923;0.127)		95					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.283G>A	CCDS939.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132045	0.77662	2.27E-4	0.0	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.66099	-0.19;-0.19;-0.19	5.48	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	L	0.59912	1.85	0.80722	D	1	P	0.38535	0.635	B	0.43103	0.408	T	0.56062	-0.8041	10	0.46703	T	0.11	-25.215	11.6353	0.51200	0.0861:0.0:0.9139:0.0	.	95	Q9Y3E2	BOLA1_HUMAN	K	95	ENSP00000358149:E95K;ENSP00000358148:E95K;ENSP00000358146:E95K	ENSP00000358146:E95K	E	+	1	0	BOLA1	148138519	1.000000	0.71417	0.963000	0.40424	0.021000	0.10359	6.553000	0.73918	2.737000	0.93849	0.561000	0.74099	GAG		0.672	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		7	45	0	0	0	1	0	7	45				
LMNB1	4001	broad.mit.edu	37	5	126171934	126171934	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:126171934A>G	ENST00000261366.5	+	11	2100	c.1739A>G	c.(1738-1740)aAt>aGt	p.N580S	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	580	Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGAGCATCCAATAGAAGCTGT	0.328																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1738-1740)aAt>aGt		lamin B1							126.0	135.0	132.0					5																	126171934		2203	4298	6501	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126171934A>G	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1739A>G	5.37:g.126171934A>G	ENSP00000261366:p.Asn580Ser					LMNB1_ENST00000460265.1_3'UTR	p.N580S	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	11	2100	+		all_cancers(142;0.103)|Prostate(80;0.081)	580			Tail.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.1739A>G	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	A	3.011	-0.203865	0.06180	.	.	ENSG00000113368	ENST00000261366	D	0.82803	-1.65	6.02	6.02	0.97574	.	0.103221	0.64402	D	0.000006	T	0.69296	0.3095	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.14578	0.011	T	0.64462	-0.6402	10	0.02654	T	1	.	14.7609	0.69604	1.0:0.0:0.0:0.0	.	580	P20700	LMNB1_HUMAN	S	580	ENSP00000261366:N580S	ENSP00000261366:N580S	N	+	2	0	LMNB1	126199833	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	5.970000	0.70431	2.306000	0.77630	0.482000	0.46254	AAT		0.328	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		15	105	0	0	0	1	0	15	105				
TAF1A	9015	broad.mit.edu	37	1	222750892	222750892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:222750892C>A	ENST00000352967.4	-	5	687	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	TAF1A_ENST00000391882.1_Nonsense_Mutation_p.E53*|TAF1A_ENST00000350027.4_Nonsense_Mutation_p.E167*|TAF1A_ENST00000366890.1_Nonsense_Mutation_p.E53*|TAF1A_ENST00000543857.1_Nonsense_Mutation_p.E167*|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	167					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GACGTATTTTCACCATGTCTC	0.383																																						ENST00000350027.4																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(499-501)Gaa>Taa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa							153.0	147.0	149.0					1																	222750892		2203	4300	6503	SO:0001587	stop_gained	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222750892C>A	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.499G>T	1.37:g.222750892C>A	ENSP00000327072:p.Glu167*					TAF1A_ENST00000366890.1_Nonsense_Mutation_p.E53*|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Nonsense_Mutation_p.E167*|TAF1A_ENST00000352967.4_Nonsense_Mutation_p.E167*|TAF1A_ENST00000391882.1_Nonsense_Mutation_p.E53*	p.E167*	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	5	652	-			167					B2RDZ8|D3DTB7|Q9NWA1	Nonsense_Mutation	SNP	ENST00000352967.4	37	c.499G>T	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	37	6.361168	0.97507	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	.	.	.	6.08	6.08	0.98989	.	0.260464	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-9.5773	17.5815	0.87970	0.0:1.0:0.0:0.0	.	.	.	.	X	53;167;167;53;129;129;167	.	ENSP00000339976:E167X	E	-	1	0	TAF1A	220817515	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.001000	0.57046	2.890000	0.99128	0.655000	0.94253	GAA		0.383	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		14	95	1	0	0.435327	1	0.435327	14	95				
APBA3	9546	broad.mit.edu	37	19	3759710	3759710	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:3759710C>G	ENST00000316757.3	-	2	753	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	185					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCTCTTCAGGTGTGACT	0.662																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(553-555)Gaa>Caa		amyloid beta (A4) precursor protein-binding, family A, member 3							26.0	31.0	29.0					19																	3759710		2203	4299	6502	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3759710C>G	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.553G>C	19.37:g.3759710C>G	ENSP00000315136:p.Glu185Gln						p.E185Q	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	753	-		Hepatocellular(1079;0.137)	185					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.553G>C	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	7.931	0.740757	0.15642	.	.	ENSG00000011132	ENST00000316757	T	0.08458	3.09	4.69	3.63	0.41609	.	0.240029	0.28560	N	0.014902	T	0.06371	0.0164	N	0.20986	0.625	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.30179	-0.9987	10	0.40728	T	0.16	.	11.5325	0.50618	0.0:0.81:0.19:0.0	.	185	O96018	APBA3_HUMAN	Q	185	ENSP00000315136:E185Q	ENSP00000315136:E185Q	E	-	1	0	APBA3	3710710	0.001000	0.12720	0.002000	0.10522	0.519000	0.34347	0.992000	0.29667	0.936000	0.37367	0.561000	0.74099	GAA		0.662	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			10	46	0	0	0	1	0	10	46				
CPS1	1373	broad.mit.edu	37	2	211539656	211539656	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:211539656G>T	ENST00000233072.5	+	35	4328	c.4132G>T	c.(4132-4134)Gct>Tct	p.A1378S	CPS1_ENST00000451903.2_Missense_Mutation_p.A927S|CPS1_ENST00000430249.2_Missense_Mutation_p.A1384S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1378			A -> T (in CPS1D). {ECO:0000269|PubMed:16737834}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTTGGTGTGGCTGAACAATT	0.343																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142	GRCh37	CM063931	CPS1	M		c.(4132-4134)Gct>Tct		carbamoyl-phosphate synthase 1, mitochondrial							139.0	133.0	135.0					2																	211539656		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211539656G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4132G>T	2.37:g.211539656G>T	ENSP00000233072:p.Ala1378Ser					CPS1_ENST00000430249.2_Missense_Mutation_p.A1384S|CPS1_ENST00000451903.2_Missense_Mutation_p.A927S	p.A1378S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	35	4328	+			1378					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4132G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767853	0.90020	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.85955	-2.05;-2.05;-2.05	5.88	5.88	0.94601	Methylglyoxal synthase-like domain (4);	0.102047	0.64402	D	0.000002	D	0.92919	0.7747	M	0.84326	2.69	0.51233	D	0.999917	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.92923	0.6357	10	0.59425	D	0.04	-9.5225	18.4089	0.90545	0.0:0.0:1.0:0.0	.	1388;1378	Q59HF8;P31327	.;CPSM_HUMAN	S	1384;1386;1378;927	ENSP00000402608:A1384S;ENSP00000233072:A1378S;ENSP00000406136:A927S	ENSP00000233072:A1378S	A	+	1	0	CPS1	211247901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.835000	0.92100	2.785000	0.95823	0.650000	0.86243	GCT		0.343	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			16	51	1	0	9.7654e-05	1	0.000100923	16	51				
NRROS	375387	broad.mit.edu	37	3	196388126	196388126	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:196388126C>G	ENST00000328557.4	+	3	1815	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	538					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTTTGGGAATCTCAGGGACTT	0.567																																						ENST00000328557.4																			0											c.(1612-1614)Ctc>Gtc		negative regulator of reactive oxygen species							121.0	121.0	121.0					3																	196388126		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196388126C>G	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1612C>G	3.37:g.196388126C>G	ENSP00000328625:p.Leu538Val						p.L538V	NM_198565.1	NP_940967.1					3	1815	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1612C>G	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	6.061	0.379489	0.11466	.	.	ENSG00000174004	ENST00000328557	T	0.80566	-1.39	5.97	3.23	0.37069	.	0.000000	0.64402	D	0.000003	D	0.86029	0.5835	M	0.85197	2.74	0.54753	D	0.999989	D	0.58620	0.983	P	0.58266	0.836	D	0.83490	0.0069	10	0.56958	D	0.05	.	5.2958	0.15751	0.1322:0.6011:0.0:0.2667	.	538	Q86YC3	LRC33_HUMAN	V	538	ENSP00000328625:L538V	ENSP00000328625:L538V	L	+	1	0	LRRC33	197872523	0.325000	0.24660	0.012000	0.15200	0.002000	0.02628	0.918000	0.28678	0.420000	0.25954	-0.182000	0.12963	CTC		0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		29	213	0	0	0	1	0	29	213				
FGA	2243	broad.mit.edu	37	4	155507691	155507691	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:155507691G>T	ENST00000302053.3	-	5	968	c.890C>A	c.(889-891)tCt>tAt	p.S297Y	FGA_ENST00000403106.3_Missense_Mutation_p.S297Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	297					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGAGCTCCCAGAGTTCCAGCT	0.572																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(889-891)tCt>tAt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						93.0	102.0	99.0					4																	155507691		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507691G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.890C>A	4.37:g.155507691G>T	ENSP00000306361:p.Ser297Tyr					FGA_ENST00000403106.3_Missense_Mutation_p.S297Y	p.S297Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	968	-	all_hematologic(180;0.215)	Renal(120;0.0458)	297					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.890C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	0.564	-0.844220	0.02671	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.71341	-0.56;-0.56	4.75	2.96	0.34315	.	25.532500	0.00166	N	0.000000	T	0.59528	0.2200	L	0.29908	0.895	0.09310	N	1	B;P	0.34462	0.284;0.454	B;B	0.37047	0.24;0.188	T	0.49986	-0.8880	10	0.02654	T	1	.	8.1393	0.31073	0.0908:0.1601:0.7491:0.0	.	297;297	P02671-2;P02671	.;FIBA_HUMAN	Y	297	ENSP00000306361:S297Y;ENSP00000385981:S297Y	ENSP00000306361:S297Y	S	-	2	0	FGA	155727141	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.679000	0.25291	0.501000	0.28013	0.563000	0.77884	TCT		0.572	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		13	98	1	0	1.49906e-05	1	1.57561e-05	13	98				
SYNE1	23345	broad.mit.edu	37	6	152716766	152716766	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:152716766C>G	ENST00000367255.5	-	51	8198	c.7597G>C	c.(7597-7599)Gaa>Caa	p.E2533Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2572Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2533Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2540Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2540Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2533					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)		TCTTCCATTTCATGGATCCAT	0.338										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(7597-7599)Gaa>Caa		spectrin repeat containing, nuclear envelope 1							131.0	121.0	125.0					6																	152716766		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152716766C>G	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.7597G>C	6.37:g.152716766C>G	ENSP00000356224:p.Glu2533Gln	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.E2540Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2540Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2533Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2572Q	p.E2533Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	51	8198	-		Ovarian(120;0.0955)	2533					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7597G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373886	0.42105	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.56	5.56	0.83823	.	0.094278	0.46145	D	0.000304	T	0.22244	0.0536	L	0.35414	1.06	0.80722	D	1	P;B;B;P	0.47106	0.647;0.209;0.209;0.89	B;B;B;B	0.41764	0.127;0.03;0.03;0.366	T	0.03193	-1.1062	10	0.12766	T	0.61	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	2516;2533;2533;2540	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2533;2540;2533;2540;2572	ENSP00000356224:E2533Q;ENSP00000396024:E2540Q;ENSP00000265368:E2533Q;ENSP00000390975:E2540Q;ENSP00000341887:E2572Q	ENSP00000265368:E2533Q	E	-	1	0	SYNE1	152758459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.648000	0.46647	2.598000	0.87819	0.655000	0.94253	GAA		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	87	0	0	0	1	0	4	87				
GLB1L2	89944	broad.mit.edu	37	11	134240970	134240970	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:134240970C>T	ENST00000535456.2	+	13	1472	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.F428F|GLB1L2_ENST00000389881.3_Silent_p.F428F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	428					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GACAGTCCTTCGGGTACATTC	0.537																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1282-1284)ttC>ttT		galactosidase, beta 1-like 2							143.0	137.0	139.0					11																	134240970		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134240970C>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1284C>T	11.37:g.134240970C>T						GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.F428F|GLB1L2_ENST00000339772.7_Silent_p.F428F	p.F428F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	13	1472	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	428					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.1284C>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	2.963	-0.214103	0.06101	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.77	-2.69	0.06022	.	.	.	.	.	T	0.57344	0.2047	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54827	-0.8235	4	.	.	.	-19.1307	11.6732	0.51415	0.0:0.4544:0.0:0.5456	.	.	.	.	W	367	.	.	R	+	1	2	GLB1L2	133746180	0.789000	0.28775	0.969000	0.41365	0.213000	0.24496	-0.179000	0.09768	-0.652000	0.05408	-0.946000	0.02672	CGG		0.537	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		4	77	0	0	0	1	0	4	77				
QDPR	5860	broad.mit.edu	37	4	17506017	17506017	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:17506017T>G	ENST00000281243.5	-	3	459	c.280A>C	c.(280-282)Aat>Cat	p.N94H	QDPR_ENST00000508623.1_Missense_Mutation_p.N94H|QDPR_ENST00000513615.1_Missense_Mutation_p.N94H|QDPR_ENST00000428702.2_Missense_Mutation_p.N63H	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	94					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GATTTGGCATTGCCCCCGGCC	0.498																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(280-282)Aat>Cat		quinoid dihydropteridine reductase	NADH(DB00157)						142.0	127.0	132.0					4																	17506017		2203	4300	6503	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17506017T>G	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.280A>C	4.37:g.17506017T>G	ENSP00000281243:p.Asn94His					QDPR_ENST00000428702.2_Missense_Mutation_p.N63H|QDPR_ENST00000513615.1_Missense_Mutation_p.N94H|QDPR_ENST00000508623.1_Missense_Mutation_p.N94H	p.N94H	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			3	459	-			94					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.280A>C	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657207	0.67586	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	D;D;D;D	0.94723	-3.5;-2.31;-3.5;-3.5	5.59	5.59	0.84812	NAD(P)-binding domain (1);	0.481346	0.26432	N	0.024419	D	0.96580	0.8884	M	0.88031	2.925	0.40801	D	0.983342	D;P	0.56746	0.977;0.947	P;P	0.57548	0.823;0.811	D	0.96776	0.9572	10	0.52906	T	0.07	-11.4855	10.0764	0.42362	0.15:0.0:0.0:0.85	.	63;94	B3KW71;P09417	.;DHPR_HUMAN	H	94;94;63;94	ENSP00000422759:N94H;ENSP00000281243:N94H;ENSP00000390944:N63H;ENSP00000426377:N94H	ENSP00000281243:N94H	N	-	1	0	QDPR	17115115	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	5.045000	0.64220	2.120000	0.65058	0.460000	0.39030	AAT		0.498	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		7	40	0	0	0	1	0	7	40				
ADCY7	113	broad.mit.edu	37	16	50339699	50339699	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:50339699C>A	ENST00000394697.2	+	14	2031	c.1691C>A	c.(1690-1692)tCc>tAc	p.S564Y	ADCY7_ENST00000566433.2_Missense_Mutation_p.S564Y|ADCY7_ENST00000538642.1_Missense_Mutation_p.S564Y|ADCY7_ENST00000254235.3_Missense_Mutation_p.S564Y|ADCY7_ENST00000537579.1_Silent_p.L430L			P51828	ADCY7_HUMAN	adenylate cyclase 7	564					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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCCTGCTGCTCCAAGTCCGAT	0.662																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1690-1692)tCc>tAc		adenylate cyclase 7	Bromocriptine(DB01200)						59.0	59.0	59.0					16																	50339699		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339699C>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1691C>A	16.37:g.50339699C>A	ENSP00000378187:p.Ser564Tyr					ADCY7_ENST00000566433.2_Missense_Mutation_p.S564Y|ADCY7_ENST00000538642.1_Missense_Mutation_p.S564Y|ADCY7_ENST00000537579.1_Silent_p.L430L|ADCY7_ENST00000254235.3_Missense_Mutation_p.S564Y	p.S564Y			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	14	2031	+		all_cancers(37;0.0127)	564					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1691C>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456033	0.43634	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.81908	-1.04;-1.55;-1.55	5.34	4.37	0.52481	.	0.616123	0.13042	U	0.418455	T	0.79616	0.4476	L	0.51422	1.61	0.80722	D	1	B;B	0.17852	0.024;0.011	B;B	0.21546	0.035;0.021	T	0.75861	-0.3168	10	0.52906	T	0.07	.	11.9706	0.53062	0.0:0.6188:0.3812:0.0	.	564;564	P51828;F5H4D1	ADCY7_HUMAN;.	Y	564	ENSP00000445046:S564Y;ENSP00000378187:S564Y;ENSP00000254235:S564Y	ENSP00000254235:S564Y	S	+	2	0	ADCY7	48897200	0.999000	0.42202	1.000000	0.80357	0.930000	0.56654	2.582000	0.46085	2.469000	0.83416	0.591000	0.81541	TCC		0.662	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			8	67	1	0	2.17888e-05	1	2.28044e-05	8	67				
CARNS1	57571	broad.mit.edu	37	11	67191138	67191138	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:67191138C>A	ENST00000307823.3	+	9	2002	c.1550C>A	c.(1549-1551)cCa>cAa	p.P517Q	CARNS1_ENST00000445895.2_Missense_Mutation_p.P640Q|CARNS1_ENST00000531040.1_Missense_Mutation_p.P614Q|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000423745.2_Missense_Mutation_p.P517Q	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	517	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CACCATGGCCCACCCTGGCCT	0.667																																						ENST00000445895.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						c.(1918-1920)cCa>cAa		carnosine synthase 1							20.0	23.0	22.0					11																	67191138		2140	4245	6385	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67191138C>A		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1550C>A	11.37:g.67191138C>A	ENSP00000308268:p.Pro517Gln					CARNS1_ENST00000531040.1_Missense_Mutation_p.P614Q|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000307823.3_Missense_Mutation_p.P517Q|CARNS1_ENST00000423745.2_Missense_Mutation_p.P517Q	p.P640Q			A5YM72	CRNS1_HUMAN			9	2033	+			517			ATP-grasp.		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.1919C>A	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395795	0.62177	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.37	5.37	0.77165	ATP-grasp fold (1);	0.000000	0.45867	D	0.000333	D	0.98046	0.9356	M	0.66939	2.045	0.46774	D	0.999199	D;D	0.76494	0.998;0.999	D;D	0.70016	0.964;0.967	D	0.98609	1.0662	10	0.56958	D	0.05	-13.5586	17.8517	0.88748	0.0:1.0:0.0:0.0	.	517;656	A5YM72;A5YM72-3	CRNS1_HUMAN;.	Q	614;517;614;517;640	ENSP00000431670:P614Q;ENSP00000308268:P517Q;ENSP00000401519:P517Q;ENSP00000389009:P640Q	ENSP00000308268:P517Q	P	+	2	0	CARNS1	66947714	0.954000	0.32549	0.974000	0.42286	0.821000	0.46438	1.991000	0.40727	2.515000	0.84797	0.549000	0.68633	CCA		0.667	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		3	16	1	0	0.150653	1	0.151266	3	16				
WNT9A	7483	broad.mit.edu	37	1	228113135	228113135	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:228113135G>A	ENST00000272164.5	-	2	191	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	61					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGCTTCAGCCGGTCGCAGGCC	0.711																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(181-183)Cgg>Tgg		wingless-type MMTV integration site family, member 9A							10.0	12.0	11.0					1																	228113135		2177	4279	6456	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228113135G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.181C>T	1.37:g.228113135G>A	ENSP00000272164:p.Arg61Trp					WNT9A_ENST00000497852.1_5'UTR	p.R61W	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			2	191	-		Prostate(94;0.0405)	61					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.181C>T	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300156	0.81136	.	.	ENSG00000143816	ENST00000272164	T	0.76448	-1.02	4.91	0.37	0.16160	.	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.66439	2.03	0.49213	D	0.99976	D	0.62365	0.991	P	0.61658	0.892	T	0.76271	-0.3020	10	0.38643	T	0.18	.	7.5399	0.27731	0.0779:0.0:0.4923:0.4298	.	61	O14904	WNT9A_HUMAN	W	61	ENSP00000272164:R61W	ENSP00000272164:R61W	R	-	1	2	WNT9A	226179758	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	3.255000	0.51484	0.089000	0.17243	0.478000	0.44815	CGG		0.711	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		3	18	0	0	0	1	0	3	18				
ATP13A3	79572	broad.mit.edu	37	3	194151043	194151043	+	Splice_Site	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:194151043A>G	ENST00000439040.1	-	25	3417	c.2626T>C	c.(2626-2628)Tat>Cat	p.Y876H	ATP13A3_ENST00000256031.4_Splice_Site_p.Y876H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	876						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCAACAAAATAACTAAGAAAC	0.264																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.e25-1		ATPase type 13A3							66.0	62.0	63.0					3																	194151043		1858	4099	5957	SO:0001630	splice_region_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194151043A>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2625-1T>C	3.37:g.194151043A>G						ATP13A3_ENST00000256031.4_Splice_Site_p.Y876_splice	p.Y876_splice			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	25	3417	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	876					Q8NC11|Q96KS1	Splice_Site	SNP	ENST00000439040.1	37	c.2624_splice	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901836	0.72754	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.57752	0.38;0.38	5.6	5.6	0.85130	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	N	0.25380	0.74	0.80722	D	1	D	0.55172	0.97	D	0.64776	0.929	T	0.63386	-0.6649	10	0.59425	D	0.04	-1.2119	15.8035	0.78473	1.0:0.0:0.0:0.0	.	876	Q9H7F0	AT133_HUMAN	H	876;876;614	ENSP00000416508:Y876H;ENSP00000256031:Y876H	ENSP00000256031:Y876H	Y	-	1	0	ATP13A3	195632332	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.519000	0.81809	2.130000	0.65690	0.482000	0.46254	TAT		0.264	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	Missense_Mutation	13	74	0	0	0	1	0	13	74				
MUC4	4585	broad.mit.edu	37	3	195515222	195515222	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:195515222T>C	ENST00000463781.3	-	2	3688	c.3229A>G	c.(3229-3231)Agc>Ggc	p.S1077G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1077G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	509					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAAGGCTGGTGACAGGA	0.572																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3229-3231)Agc>Ggc		mucin 4, cell surface associated							26.0	17.0	20.0					3																	195515222		692	1587	2279	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515222T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3229A>G	3.37:g.195515222T>C	ENSP00000417498:p.Ser1077Gly					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1077G	p.S1077G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3688	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	944					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3229A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.564	-0.301270	0.05495	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.47	1.0	-0.0619	0.13783	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.09310	N	1	B	0.33494	0.414	B	0.22601	0.04	T	0.18555	-1.0333	8	.	.	.	.	0.5273	0.00622	0.2362:0.3388:0.2348:0.1902	.	1077	E7ESK3	.	G	1077	ENSP00000417498:S1077G;ENSP00000420243:S1077G	.	S	-	1	0	MUC4	196999617	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.566000	0.06054	-2.075000	0.00382	AGC		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	1	0	0	0	1	0	3	1				
SLAMF9	89886	broad.mit.edu	37	1	159922313	159922313	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:159922313C>G	ENST00000368093.3	-	3	519	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	135						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCTGGGGCTCTGACAGCCAT	0.512																																						ENST00000368093.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(403-405)Gag>Cag		SLAM family member 9							94.0	93.0	94.0					1																	159922313		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922313C>G	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.403G>C	1.37:g.159922313C>G	ENSP00000357072:p.Glu135Gln					SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	p.E135Q	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	519	-	all_hematologic(112;0.093)		135					Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.403G>C	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	C	9.451	1.090581	0.20471	.	.	ENSG00000162723	ENST00000368093	T	0.22539	1.95	4.89	-8.36	0.00980	.	0.665209	0.15622	N	0.252806	T	0.02727	0.0082	L	0.39898	1.24	0.09310	N	0.999999	B	0.18461	0.028	B	0.18871	0.023	T	0.34800	-0.9814	9	.	.	.	-8.352	0.7976	0.01069	0.1939:0.2207:0.1927:0.3927	.	135	Q96A28	SLAF9_HUMAN	Q	135	ENSP00000357072:E135Q	.	E	-	1	0	SLAMF9	158188937	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-1.793000	0.01258	-0.143000	0.13931	GAG		0.512	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		22	94	0	0	0	1	0	22	94				
SFTPB	6439	broad.mit.edu	37	2	85892750	85892750	+	Silent	SNP	C	C	T	rs543913426	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:85892750C>T	ENST00000519937.2	-	5	580	c.561G>A	c.(559-561)gcG>gcA	p.A187A	SFTPB_ENST00000393822.3_Silent_p.A199A|SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000342375.3_Silent_p.A187A			P07988	PSPB_HUMAN	surfactant protein B	187					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						GCCCAGGCCTCGCCTGGAGGG	0.677													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.001					ENST00000393822.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(595-597)gcG>gcA		surfactant protein B							32.0	35.0	34.0					2																	85892750		2201	4300	6501	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892750C>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.561G>A	2.37:g.85892750C>T						SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000342375.3_Silent_p.A187A|SFTPB_ENST00000519937.2_Silent_p.A187A	p.A199A			P07988	PSPB_HUMAN			6	696	-			187					Q96R04	Silent	SNP	ENST00000519937.2	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	c	10.23	1.292572	0.23564	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.7	-1.97	0.07503	.	.	.	.	.	T	0.22666	0.0547	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	1.0166	4.6474	0.12579	0.0:0.3518:0.2851:0.3631	.	.	.	.	K	184	.	.	E	-	1	0	SFTPB	85746261	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.228000	0.09114	-0.912000	0.03837	0.556000	0.70494	GAG		0.677	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		18	89	0	0	0	1	0	18	89				
TAS2R4	50832	broad.mit.edu	37	7	141478996	141478996	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:141478996C>T	ENST00000247881.2	+	1	755	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	236					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTATTTCCTCATCCTCTACA	0.448																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(706-708)ctC>ctT		taste receptor, type 2, member 4							167.0	147.0	154.0					7																	141478996		2203	4300	6503	SO:0001819	synonymous_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478996C>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.708C>T	7.37:g.141478996C>T						SSBP1_ENST00000465582.1_Intron	p.L236L	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	755	+	Melanoma(164;0.0171)		236					Q645W5|Q75MV8	Silent	SNP	ENST00000247881.2	37	c.708C>T	CCDS5868.1																																																																																				0.448	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			15	80	0	0	0	1	0	15	80				
USP29	57663	broad.mit.edu	37	19	57640702	57640702	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:57640702G>C	ENST00000254181.4	+	4	1113	c.659G>C	c.(658-660)aGa>aCa	p.R220T	USP29_ENST00000598197.1_Missense_Mutation_p.R220T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	220					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.R220T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAAAAGATAGAGATTTGAAA	0.363																																						ENST00000254181.4																			1	Substitution - Missense(1)	p.R220T(1)	lung(1)	breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(658-660)aGa>aCa		ubiquitin specific peptidase 29							59.0	65.0	63.0					19																	57640702		2202	4300	6502	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640702G>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.659G>C	19.37:g.57640702G>C	ENSP00000254181:p.Arg220Thr					USP29_ENST00000598197.1_Missense_Mutation_p.R220T	p.R220T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1113	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	220						Missense_Mutation	SNP	ENST00000254181.4	37	c.659G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	8.208	0.799617	0.16397	.	.	ENSG00000131864	ENST00000254181	T	0.48836	0.8	2.69	-5.08	0.02929	.	3.445640	0.01128	U	0.005920	T	0.34019	0.0883	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15578	-1.0432	10	0.59425	D	0.04	6.8958	1.6061	0.02684	0.2064:0.2865:0.3615:0.1456	.	220	Q9HBJ7	UBP29_HUMAN	T	220	ENSP00000254181:R220T	ENSP00000254181:R220T	R	+	2	0	USP29	62332514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.075000	0.11431	-1.017000	0.03367	0.591000	0.81541	AGA		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			8	53	0	0	0	1	0	8	53				
DUOXA1	90527	broad.mit.edu	37	15	45413348	45413348	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:45413348C>T	ENST00000560572.1	-	3	282	c.277G>A	c.(277-279)Gag>Aag	p.E93K	DUOXA1_ENST00000558996.1_Intron|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E93K|DUOXA1_ENST00000267803.4_Missense_Mutation_p.E93K|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000558422.1_Intron	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	93					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTGATCCACTCAGAACTGAAG	0.557																																						ENST00000267803.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(277-279)Gag>Aag		dual oxidase maturation factor 1							133.0	89.0	104.0					15																	45413348		2198	4298	6496	SO:0001583	missense	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45413348C>T	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.277G>A	15.37:g.45413348C>T	ENSP00000454084:p.Glu93Lys					DUOXA1_ENST00000558996.1_Intron|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E93K|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000558422.1_Intron|DUOXA1_ENST00000560572.1_Missense_Mutation_p.E93K	p.E93K	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	6	676	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	93					Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37	c.277G>A		.	.	.	.	.	.	.	.	.	.	C	13.60	2.286101	0.40394	.	.	ENSG00000140254	ENST00000267803	T	0.57595	0.39	5.11	-9.05	0.00730	.	1.225070	0.05539	N	0.565294	T	0.30166	0.0756	L	0.38953	1.18	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.14578	0.004;0.011	T	0.16158	-1.0412	10	0.27785	T	0.31	-1.0E-4	0.311	0.00288	0.2413:0.191:0.2618:0.3059	.	93;93	Q1HG43;A8K9Q6	DOXA1_HUMAN;.	K	93	ENSP00000267803:E93K	ENSP00000267803:E93K	E	-	1	0	DUOXA1	43200640	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	0.063000	0.14410	-1.302000	0.02335	-0.175000	0.13238	GAG		0.557	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		9	44	0	0	0	1	0	9	44				
ZNF404	342908	broad.mit.edu	37	19	44377448	44377448	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:44377448C>A	ENST00000587539.1	-	3	917	c.918G>T	c.(916-918)aaG>aaT	p.K306N	ZNF404_ENST00000324394.6_Missense_Mutation_p.K304N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GAACAAAGGCCTTTTCACATT	0.383																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(916-918)aaG>aaT		zinc finger protein 404							44.0	47.0	46.0					19																	44377448		2052	4212	6264	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377448C>A	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.918G>T	19.37:g.44377448C>A	ENSP00000466051:p.Lys306Asn					ZNF404_ENST00000324394.6_Missense_Mutation_p.K304N	p.K306N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	917	-		Prostate(69;0.0352)	306					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.918G>T	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	7.006	0.555765	0.13436	.	.	ENSG00000176222	ENST00000324394	T	0.27890	1.64	2.01	0.956	0.19608	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57636	0.2067	M	0.92268	3.29	0.19300	N	0.999971	D	0.76494	0.999	D	0.72075	0.976	T	0.42799	-0.9430	9	0.72032	D	0.01	.	5.4474	0.16544	0.0:0.6967:0.0:0.3033	.	306	Q494X3	ZN404_HUMAN	N	304	ENSP00000319479:K304N	ENSP00000319479:K304N	K	-	3	2	ZNF404	49069288	0.015000	0.18098	0.945000	0.38365	0.088000	0.18126	0.135000	0.15952	0.394000	0.25230	0.404000	0.27445	AAG		0.383	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		9	48	1	0	0.000978159	1	0.00100669	9	48				
ACTR1B	10120	broad.mit.edu	37	2	98274969	98274969	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:98274969T>C	ENST00000289228.5	-	6	794	c.578A>G	c.(577-579)tAc>tGc	p.Y193C		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	193					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GAGTCGGAGGTAGCGGGAGAC	0.602																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(577-579)tAc>tGc		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							109.0	102.0	104.0					2																	98274969		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98274969T>C	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.578A>G	2.37:g.98274969T>C	ENSP00000289228:p.Tyr193Cys						p.Y193C	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			6	794	-			193					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.578A>G	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380045	0.61845	.	.	ENSG00000115073	ENST00000289228	D	0.94828	-3.53	5.45	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.88640	2.97	0.80722	D	1	D	0.59767	0.986	D	0.68039	0.955	D	0.96260	0.9190	10	0.87932	D	0	.	8.3845	0.32493	0.3143:0.0:0.0:0.6857	.	193	P42025	ACTY_HUMAN	C	193	ENSP00000289228:Y193C	ENSP00000289228:Y193C	Y	-	2	0	ACTR1B	97641401	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	2.649000	0.46656	0.893000	0.36288	-0.301000	0.09380	TAC		0.602	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		6	53	0	0	0	1	0	6	53				
PI16	221476	broad.mit.edu	37	6	36922648	36922648	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:36922648G>A	ENST00000373674.3	+	1	440	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	38	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTGATGGTGGAGCTGCACAA	0.612																																						ENST00000373674.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(112-114)Gag>Aag		peptidase inhibitor 16							63.0	61.0	62.0					6																	36922648		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36922648G>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.112G>A	6.37:g.36922648G>A	ENSP00000362778:p.Glu38Lys						p.E38K	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			1	440	+			38					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.112G>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927601	0.34002	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.08546	3.08	5.51	0.148	0.14843	CAP domain (3);	0.453330	0.22583	N	0.058190	T	0.01454	0.0047	N	0.13003	0.285	0.27649	N	0.947456	B;B	0.15141	0.012;0.004	B;B	0.23275	0.045;0.011	T	0.46133	-0.9213	10	0.37606	T	0.19	.	8.4943	0.33119	0.1339:0.3532:0.5129:0.0	.	38;38	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	K	38	ENSP00000362778:E38K	ENSP00000362778:E38K	E	+	1	0	PI16	37030626	1.000000	0.71417	0.893000	0.35052	0.366000	0.29705	0.909000	0.28558	-0.001000	0.14495	0.491000	0.48974	GAG		0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		12	57	0	0	0	1	0	12	57				
FYCO1	79443	broad.mit.edu	37	3	46009654	46009654	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:46009654G>C	ENST00000296137.2	-	8	1377	c.1172C>G	c.(1171-1173)cCt>cGt	p.P391R	FYCO1_ENST00000535325.1_Missense_Mutation_p.P391R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	391					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACTGGGAATAGGTTCTTGCCG	0.557																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1171-1173)cCt>cGt		FYVE and coiled-coil domain containing 1							154.0	156.0	155.0					3																	46009654		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009654G>C	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1172C>G	3.37:g.46009654G>C	ENSP00000296137:p.Pro391Arg					FYCO1_ENST00000535325.1_Missense_Mutation_p.P391R	p.P391R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1377	-			391					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1172C>G	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.169122	0.00315	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.19806	2.12;2.12	5.14	-0.518	0.11943	.	0.686245	0.14567	N	0.311709	T	0.07728	0.0194	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32719	-0.9896	10	0.17369	T	0.5	-0.4744	1.0315	0.01539	0.1652:0.2434:0.2436:0.3479	.	391;391	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	R	391	ENSP00000296137:P391R;ENSP00000441178:P391R	ENSP00000296137:P391R	P	-	2	0	FYCO1	45984658	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.026000	0.13599	-0.345000	0.08325	-0.962000	0.02626	CCT		0.557	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		24	158	0	0	0	1	0	24	158				
RNF168	165918	broad.mit.edu	37	3	196198983	196198983	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:196198983G>A	ENST00000318037.3	-	6	2017	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	475					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H475D(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCGCGTAAGTGATACTCATCT	0.458																																						ENST00000318037.3																			1	Substitution - Missense(1)	p.H475D(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(1423-1425)Cac>Tac		ring finger protein 168, E3 ubiquitin protein ligase							263.0	248.0	253.0					3																	196198983		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196198983G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1423C>T	3.37:g.196198983G>A	ENSP00000320898:p.His475Tyr						p.H475Y	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	2017	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		475					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.1423C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134937	0.21123	.	.	ENSG00000163961	ENST00000318037	T	0.06528	3.29	6.08	4.27	0.50696	.	0.975048	0.08440	N	0.945641	T	0.05547	0.0146	N	0.22421	0.69	0.20403	N	0.999905	P	0.41450	0.75	B	0.25759	0.063	T	0.45469	-0.9259	10	0.66056	D	0.02	0.1142	16.693	0.85327	0.0:0.2448:0.7552:0.0	.	475	Q8IYW5	RN168_HUMAN	Y	475	ENSP00000320898:H475Y	ENSP00000320898:H475Y	H	-	1	0	RNF168	197683380	0.984000	0.35163	0.194000	0.23346	0.001000	0.01503	3.791000	0.55469	0.889000	0.36185	-0.189000	0.12847	CAC		0.458	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		30	288	0	0	0	1	0	30	288				
RXFP1	59350	broad.mit.edu	37	4	159568119	159568119	+	Missense_Mutation	SNP	T	T	A	rs374507144		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:159568119T>A	ENST00000307765.5	+	16	1773	c.1522T>A	c.(1522-1524)Ttg>Atg	p.L508M	RXFP1_ENST00000470033.1_Missense_Mutation_p.L475M|RXFP1_ENST00000448688.2_Missense_Mutation_p.L403M|RXFP1_ENST00000343542.5_Missense_Mutation_p.L460M|RXFP1_ENST00000460056.2_Missense_Mutation_p.L427M	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	508					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTTCTGACATTGGAAAAATA	0.388																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1522-1524)Ttg>Atg		relaxin/insulin-like family peptide receptor 1							126.0	117.0	119.0					4																	159568119		1882	4113	5995	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568119T>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1522T>A	4.37:g.159568119T>A	ENSP00000303248:p.Leu508Met					RXFP1_ENST00000470033.1_Missense_Mutation_p.L475M|RXFP1_ENST00000343542.5_Missense_Mutation_p.L460M|RXFP1_ENST00000448688.2_Missense_Mutation_p.L403M|RXFP1_ENST00000460056.2_Missense_Mutation_p.L427M	p.L508M	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1773	+	all_hematologic(180;0.24)	Renal(120;0.0854)	508					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1522T>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350215	0.61183	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.74	-11.5	0.00074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.75884	2.315	0.28502	N	0.913982	P;D;P;P;P;B;P;D	0.89917	0.883;1.0;0.809;0.51;0.858;0.283;0.883;0.973	P;D;P;P;P;P;P;P	0.79784	0.745;0.993;0.745;0.511;0.698;0.491;0.8;0.859	T	0.78006	-0.2373	10	0.59425	D	0.04	.	17.5759	0.87949	0.0:0.1081:0.0752:0.8167	.	519;535;403;460;475;427;378;508	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	M	427;508;403;460;475;378	ENSP00000423306:L427M;ENSP00000303248:L508M;ENSP00000414885:L403M;ENSP00000345889:L460M;ENSP00000420712:L475M	ENSP00000303248:L508M	L	+	1	2	RXFP1	159787569	0.000000	0.05858	0.002000	0.10522	0.829000	0.46940	-1.185000	0.03073	-2.725000	0.00387	-1.964000	0.00472	TTG		0.388	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		14	35	0	0	0	1	0	14	35				
CFAP46	54777	broad.mit.edu	37	10	134621926	134621926	+	Nonstop_Mutation	SNP	C	C	G	rs542624364		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:134621926C>G	ENST00000368586.5	-	58	8247	c.8147G>C	c.(8146-8148)tGa>tCa	p.*2716S	TTC40_ENST00000263170.5_Nonstop_Mutation_p.*877S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGGAACACTCAAATCAAAAA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		16814	0.0		0.001	False		,,,				2504	0.0					ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(8146-8148)tGa>tCa		tetratricopeptide repeat domain 40							89.0	102.0	98.0					10																	134621926		2203	4300	6503	SO:0001578	stop_lost	54777							g.chr10:134621926C>G																												ENST00000368586.5:c.8147G>C	10.37:g.134621926C>G						TTC40_ENST00000263170.5_Nonstop_Mutation_p.*877S	p.*2716S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			58	8247	-			0						Nonstop_Mutation	SNP	ENST00000368586.5	37	c.8147G>C	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	2.152	-0.394327	0.04899	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	.	.	.	0.81	-0.226	0.13106	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1985	0.06641	0.0:0.6601:0.0:0.3399	.	.	.	.	S	2716;877	.	.	X	-	2	2	C10orf93	134471916	0.000000	0.05858	0.005000	0.12908	0.085000	0.17905	-1.912000	0.01582	-0.079000	0.12707	0.436000	0.28706	TGA		0.577	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			34	157	0	0	0	1	0	34	157				
PTPRS	5802	broad.mit.edu	37	19	5258057	5258057	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:5258057T>A	ENST00000587303.1	-	7	776	c.677A>T	c.(676-678)tAc>tTc	p.Y226F	PTPRS_ENST00000262963.6_Missense_Mutation_p.Y226F|PTPRS_ENST00000588012.1_Missense_Mutation_p.Y217F|PTPRS_ENST00000372412.4_Missense_Mutation_p.Y227F|PTPRS_ENST00000348075.2_Missense_Mutation_p.Y217F|PTPRS_ENST00000353284.2_Missense_Mutation_p.Y217F|PTPRS_ENST00000357368.4_Missense_Mutation_p.Y226F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.Y217F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	226	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGGTGAGGAGTAGCGCACGCC	0.627																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(679-681)tAc>tTc		protein tyrosine phosphatase, receptor type, S							121.0	116.0	117.0					19																	5258057		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5258057T>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.677A>T	19.37:g.5258057T>A	ENSP00000467537:p.Tyr226Phe					PTPRS_ENST00000262963.6_Missense_Mutation_p.Y226F|PTPRS_ENST00000592099.1_Missense_Mutation_p.Y217F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Missense_Mutation_p.Y226F|PTPRS_ENST00000357368.4_Missense_Mutation_p.Y226F|PTPRS_ENST00000353284.2_Missense_Mutation_p.Y217F|PTPRS_ENST00000348075.2_Missense_Mutation_p.Y217F|PTPRS_ENST00000588012.1_Missense_Mutation_p.Y217F	p.Y227F			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	8	913	-			226			Ig-like C2-type 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.680A>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090481	0.55968	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;D;D;T;T	0.95949	1.59;-3.86;-3.86;1.18;1.18	3.59	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	U	0.000022	D	0.93828	0.8026	N	0.11023	0.085	0.58432	D	0.999999	D;D;B;P;D;B	0.89917	0.999;0.998;0.125;0.814;1.0;0.151	D;D;B;P;D;B	0.97110	0.995;0.981;0.099;0.515;1.0;0.248	D	0.93185	0.6578	10	0.38643	T	0.18	.	12.3528	0.55157	0.0:0.0:0.0:1.0	.	226;217;217;217;226;243	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	F	243;227;226;226;226;226;217;226;217;217	ENSP00000361489:Y227F;ENSP00000349932:Y226F;ENSP00000262963:Y226F;ENSP00000269907:Y217F;ENSP00000327313:Y217F	ENSP00000262963:Y226F	Y	-	2	0	PTPRS	5209057	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.755000	0.62198	1.512000	0.48834	0.454000	0.30748	TAC		0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			54	70	0	0	0	1	0	54	70				
PLEKHM1P	440456	broad.mit.edu	37	17	62796485	62796485	+	RNA	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:62796485C>G	ENST00000582986.1	-	0	1435					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GGAAACATTTCAGAGCCTCCA	0.547																																						ENST00000582986.1																			0																																																			440456							g.chr17:62796485C>G			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796485C>G								NR_024386.1						0	1435	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.547	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		3	34	0	0	0	1	0	3	34				
LRIG2	9860	broad.mit.edu	37	1	113638590	113638590	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:113638590G>C	ENST00000361127.5	+	7	1096	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	300					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GAATGCTATTGAAAGAATCAG	0.458																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(898-900)Gaa>Caa		leucine-rich repeats and immunoglobulin-like domains 2							113.0	105.0	108.0					1																	113638590		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113638590G>C	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.898G>C	1.37:g.113638590G>C	ENSP00000355396:p.Glu300Gln						p.E300Q	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	7	1096	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	300					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.898G>C	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	14.53	2.563067	0.45694	.	.	ENSG00000198799	ENST00000361127	T	0.25085	1.82	6.15	6.15	0.99193	.	0.214025	0.48767	D	0.000166	T	0.08582	0.0213	L	0.39020	1.185	0.31786	N	0.630246	B	0.09022	0.002	B	0.14578	0.011	T	0.13335	-1.0513	10	0.31617	T	0.26	.	7.3068	0.26453	0.1041:0.1687:0.7272:0.0	.	300	O94898	LRIG2_HUMAN	Q	300	ENSP00000355396:E300Q	ENSP00000355396:E300Q	E	+	1	0	LRIG2	113440113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.563000	0.53784	2.932000	0.99384	0.643000	0.83706	GAA		0.458	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		11	54	0	0	0	1	0	11	54				
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187.0	182.0	183.0					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met					SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		11	162	0	0	0	1	0	11	162				
PKD1L2	114780	broad.mit.edu	37	16	81248732	81248732	+	RNA	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr16:81248732G>C	ENST00000525539.1	-	0	530				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGGACCTGGATGACCTGCC	0.637											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(529-531)atC>atG		polycystic kidney disease 1-like 2							18.0	23.0	22.0					16																	81248732		1963	4138	6101			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81248732G>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248732G>C			OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1204	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.I177M			Q7Z442	PK1L2_HUMAN			3	530	-			177			SUEL-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.531C>G		.	.	.	.	.	.	.	.	.	.	G	12.21	1.869792	0.33069	.	.	ENSG00000166473	ENST00000337114	T	0.20738	2.05	4.77	-0.259	0.12971	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.145674	0.44285	D	0.000466	T	0.34308	0.0893	.	.	.	0.22591	N	0.99896	D;D	0.67145	0.996;0.987	D;D	0.66497	0.939;0.944	T	0.08046	-1.0741	9	0.87932	D	0	-4.8829	6.1259	0.20180	0.3497:0.1421:0.5082:0.0	.	177;177	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	M	177	ENSP00000337397:I177M	ENSP00000337397:I177M	I	-	3	3	PKD1L2	79806233	0.951000	0.32395	0.568000	0.28447	0.190000	0.23558	-0.001000	0.12947	0.083000	0.17047	-0.142000	0.14014	ATC		0.637	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			3	12	0	0	0	1	0	3	12				
ZNF585B	92285	broad.mit.edu	37	19	37677480	37677480	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:37677480T>A	ENST00000532828.2	-	5	1210	c.959A>T	c.(958-960)cAc>cTc	p.H320L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.H265L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCTTGTGTGAACACGTTG	0.388																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(958-960)cAc>cTc		zinc finger protein 585B							215.0	197.0	203.0					19																	37677480		2203	4297	6500	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677480T>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.959A>T	19.37:g.37677480T>A	ENSP00000433773:p.His320Leu					ZNF585B_ENST00000531805.1_Missense_Mutation_p.H265L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	p.H320L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1210	-			320					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.959A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132414	0.37630	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.28454	1.61;1.61	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39475	N	0.001344	T	0.64907	0.2641	H	0.96748	3.875	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.81914	0.995;0.97	T	0.73733	-0.3890	10	0.87932	D	0	.	9.9503	0.41634	0.0:0.0:0.0:1.0	.	265;320	E9PQH3;Q52M93	.;Z585B_HUMAN	L	265;320	ENSP00000436774:H265L;ENSP00000433773:H320L	ENSP00000436774:H265L	H	-	2	0	ZNF585B	42369320	1.000000	0.71417	0.068000	0.19968	0.010000	0.07245	5.394000	0.66285	1.228000	0.43614	0.374000	0.22700	CAC		0.388	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		72	198	0	0	0	1	0	72	198				
FSD2	123722	broad.mit.edu	37	15	83437633	83437633	+	Splice_Site	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:83437633C>G	ENST00000334574.8	-	9	1733	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	FSD2_ENST00000541889.1_Splice_Site_p.E473Q			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	518	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ATGACTCACTCAGTTACACCC	0.532																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.e9+1		fibronectin type III and SPRY domain containing 2							41.0	43.0	42.0					15																	83437633		2017	4188	6205	SO:0001630	splice_region_variant	123722							g.chr15:83437633C>G	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1553+1G>C	15.37:g.83437633C>G						FSD2_ENST00000541889.1_Splice_Site_p.E473_splice	p.E518_splice			A1L4K1	FSD2_HUMAN			9	1733	-			518			Fibronectin type-III 2.		B3KVG1|B7ZM02	Splice_Site	SNP	ENST00000334574.8	37	c.1553_splice	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208709	0.79240	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.59772	0.36;0.24	5.46	5.46	0.80206	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.046814	0.85682	D	0.000000	T	0.75895	0.3912	M	0.72118	2.19	0.52501	D	0.999951	D;D	0.89917	0.999;1.0	D;D	0.87578	0.978;0.998	T	0.75852	-0.3171	10	0.48119	T	0.1	-28.5058	18.291	0.90130	0.0:1.0:0.0:0.0	.	473;518	B7ZM02;A1L4K1	.;FSD2_HUMAN	Q	518;473	ENSP00000335651:E518Q;ENSP00000444078:E473Q	ENSP00000335651:E518Q	E	-	1	0	FSD2	81234687	1.000000	0.71417	0.956000	0.39512	0.505000	0.33919	6.710000	0.74670	2.575000	0.86900	0.561000	0.74099	GAG		0.532	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	Missense_Mutation	3	16	0	0	0	1	0	3	16				
CTSV	1515	broad.mit.edu	37	9	99799674	99799674	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr9:99799674C>T	ENST00000259470.5	-	4	505	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.E86K	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	86					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CTGAATTCTTCATTGGTCTTC	0.423																																						ENST00000259470.5																			0											c.(256-258)Gaa>Aaa		cathepsin V							100.0	100.0	100.0					9																	99799674		2203	4300	6503	SO:0001583	missense	1515							g.chr9:99799674C>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.256G>A	9.37:g.99799674C>T	ENSP00000259470:p.Glu86Lys					CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.E86K	p.E86K	NM_001333.3	NP_001324.2					4	505	-								O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.256G>A	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506488	0.64410	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.87571	-2.27;-2.27	3.69	2.79	0.32731	Proteinase inhibitor I29, cathepsin propeptide (2);	0.047924	0.85682	D	0.000000	D	0.89008	0.6593	M	0.82132	2.575	0.80722	D	1	P;P	0.49090	0.696;0.919	B;P	0.50352	0.422;0.638	D	0.88088	0.2811	9	.	.	.	.	9.327	0.37999	0.0:0.8909:0.0:0.1091	.	86;86	B2R717;O60911	.;CATL2_HUMAN	K	86	ENSP00000259470:E86K;ENSP00000445052:E86K	.	E	-	1	0	CTSL2	98839495	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.919000	0.75793	1.148000	0.42385	0.561000	0.74099	GAA		0.423	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		7	87	0	0	0	1	0	7	87				
TTN	7273	broad.mit.edu	37	2	179579932	179579932	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:179579932G>A	ENST00000591111.1	-	88	25254	c.25030C>T	c.(25030-25032)Cac>Tac	p.H8344Y	TTN_ENST00000589042.1_Missense_Mutation_p.H8661Y|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H7417Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12519	Ig-like 66.				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)			CATTCAAGGTGAACATCAGCT	0.413																																						ENST00000589042.1																			0				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						c.(25981-25983)Cac>Tac		titin							181.0	164.0	169.0					2																	179579932		1871	4107	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579932G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25030C>T	2.37:g.179579932G>A	ENSP00000465570:p.His8344Tyr					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H8344Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H7417Y|TTN_ENST00000342175.6_Intron	p.H8661Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26205	-			8344			Ig-like 69.		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.25981C>T		.	.	.	.	.	.	.	.	.	.	G	12.91	2.080230	0.36662	.	.	ENSG00000155657	ENST00000342992	T	0.40476	1.03	5.62	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32496	0.0831	L	0.35593	1.075	0.80722	D	1	P	0.44946	0.846	B	0.37989	0.262	T	0.20806	-1.0264	9	0.87932	D	0	.	13.6854	0.62513	0.0:0.0:0.7192:0.2808	.	8344	Q8WZ42	TITIN_HUMAN	Y	7417	ENSP00000343764:H7417Y	ENSP00000343764:H7417Y	H	-	1	0	TTN	179288177	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.676000	0.68131	1.364000	0.46038	0.655000	0.94253	CAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	101	0	0	0	1	0	11	101				
CAP2	10486	broad.mit.edu	37	6	17539623	17539623	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:17539623G>C	ENST00000229922.2	+	8	1292	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	CAP2_ENST00000489374.1_Missense_Mutation_p.E142Q|CAP2_ENST00000378990.2_Missense_Mutation_p.E228Q|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.E190Q	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	254					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.E254K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGGCAAAAAAGAGGAATCTTC	0.517																																						ENST00000229922.2																			1	Substitution - Missense(1)	p.E254K(1)	skin(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(760-762)Gag>Cag		CAP, adenylate cyclase-associated protein, 2 (yeast)							144.0	125.0	131.0					6																	17539623		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17539623G>C	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.760G>C	6.37:g.17539623G>C	ENSP00000229922:p.Glu254Gln					CAP2_ENST00000378990.2_Missense_Mutation_p.E228Q|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.E190Q|CAP2_ENST00000489374.1_Missense_Mutation_p.E142Q	p.E254Q	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		8	1292	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	254					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.760G>C	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.386506	0.61956	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000465994	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.53	3.63	0.41609	Adenylate cyclase-associated CAP, N-terminal (1);	0.258130	0.43919	N	0.000510	T	0.07548	0.0190	L	0.27053	0.805	0.32306	N	0.56435	B;P;P;P	0.42161	0.016;0.757;0.464;0.772	B;P;B;P	0.48524	0.021;0.58;0.251;0.464	T	0.17561	-1.0365	10	0.27785	T	0.31	-16.1923	15.8058	0.78506	0.0:0.2566:0.7434:0.0	.	142;190;228;254	B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;CAP2_HUMAN	Q	254;171;142;228;190	ENSP00000229922:E254Q;ENSP00000417705:E142Q;ENSP00000368275:E228Q;ENSP00000418604:E190Q	ENSP00000229922:E254Q	E	+	1	0	CAP2	17647602	1.000000	0.71417	0.100000	0.21137	0.631000	0.37964	3.758000	0.55220	1.261000	0.44149	0.655000	0.94253	GAG		0.517	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			22	81	0	0	0	1	0	22	81				
ISL1	3670	broad.mit.edu	37	5	50685661	50685661	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:50685661C>T	ENST00000230658.7	+	4	1245	c.660C>T	c.(658-660)ctC>ctT	p.L220L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L220L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	220					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGACGGGCCTCAGTCCCCGTG	0.572																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(658-660)ctC>ctT		ISL LIM homeobox 1							65.0	76.0	73.0					5																	50685661		2203	4300	6503	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50685661C>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.660C>T	5.37:g.50685661C>T						ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L220L	p.L220L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			4	1245	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	220					P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.660C>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	8.719	0.913944	0.17907	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.73	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.5006	0.33156	0.0:0.7338:0.1274:0.1388	.	.	.	.	X	167	.	ENSP00000421737:Q167X	Q	+	1	0	ISL1	50721418	0.998000	0.40836	1.000000	0.80357	0.844000	0.47949	0.639000	0.24690	0.765000	0.33221	0.585000	0.79938	CAG		0.572	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		5	52	0	0	0	1	0	5	52				
RTN4	57142	broad.mit.edu	37	2	55254574	55254574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:55254574G>A	ENST00000337526.6	-	3	904	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	RTN4_ENST00000394611.2_Nonsense_Mutation_p.Q15*|RTN4_ENST00000357376.3_Nonsense_Mutation_p.Q15*|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000404909.1_Nonsense_Mutation_p.Q15*|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Nonsense_Mutation_p.Q15*|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	221					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAATCCTCTTGACCAGCCGAA	0.448																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(661-663)Caa>Taa		reticulon 4							82.0	74.0	77.0					2																	55254574		2203	4300	6503	SO:0001587	stop_gained	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254574G>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.661C>T	2.37:g.55254574G>A	ENSP00000337838:p.Gln221*					RTN4_ENST00000394611.2_Nonsense_Mutation_p.Q15*|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Nonsense_Mutation_p.Q15*|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Nonsense_Mutation_p.Q15*|RTN4_ENST00000404909.1_Nonsense_Mutation_p.Q15*|RTN4_ENST00000402434.2_Intron	p.Q221*	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	904	-			221					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Nonsense_Mutation	SNP	ENST00000337526.6	37	c.661C>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340981	0.81911	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	.	.	.	5.93	5.93	0.95920	.	0.206036	0.35320	N	0.003297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.8789	20.3311	0.98718	0.0:0.0:1.0:0.0	.	.	.	.	X	15;15;221;15;15;15	.	ENSP00000337838:Q221X	Q	-	1	0	RTN4	55108078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.957000	0.63652	2.803000	0.96430	0.650000	0.86243	CAA		0.448	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			16	70	0	0	0	1	0	16	70				
GCC1	79571	broad.mit.edu	37	7	127224348	127224348	+	Missense_Mutation	SNP	G	G	A	rs139439757	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:127224348G>A	ENST00000321407.2	-	1	1313	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	297					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCACCTCACGGGTCAGCTGC	0.542											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	8	0.00159744	0.0053	0.0014	5008	,	,		19838	0.0		0.0	False		,,,				2504	0.0					ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(889-891)Cgt>Tgt		GRIP and coiled-coil domain containing 1		G	CYS/ARG	24,4382	30.8+/-60.4	0,24,2179	94.0	92.0	93.0		889	0.8	0.1	7	dbSNP_134	93	0,8600		0,0,4300	yes	missense	GCC1	NM_024523.5	180	0,24,6479	AA,AG,GG		0.0,0.5447,0.1845	benign	297/776	127224348	24,12982	2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224348G>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.889C>T	7.37:g.127224348G>A	ENSP00000318821:p.Arg297Cys		OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.R297C	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	1313	-			297					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.889C>T	CCDS5796.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	13.35	2.209572	0.39003	0.005447	0.0	ENSG00000179562	ENST00000321407	T	0.12361	2.69	5.91	0.771	0.18504	.	0.480581	0.23594	N	0.046503	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.49635	0.926	B	0.32805	0.153	T	0.42103	-0.9471	10	0.72032	D	0.01	-0.0253	1.7127	0.02895	0.1459:0.2523:0.3423:0.2595	.	297	Q96CN9	GCC1_HUMAN	C	297	ENSP00000318821:R297C	ENSP00000318821:R297C	R	-	1	0	GCC1	127011584	0.003000	0.15002	0.101000	0.21167	0.981000	0.71138	0.777000	0.26718	0.391000	0.25143	0.655000	0.94253	CGT		0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		6	46	0	0	0	1	0	6	46				
ZNF721	170960	broad.mit.edu	37	4	419668	419668	+	IGR	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:419668G>C	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGGTAGCCTGAGAGAGGCTG	0.448																																						ENST00000451020.2																			0																																																	SO:0001628	intergenic_variant	79963							g.chr4:419668G>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419668G>C								NR_002451.2						0	1370	-								Q69YG7	RNA	SNP	ENST00000506646.1	37																																																																																						0.448	ZNF721-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000357869.2	NM_133474		7	22	0	0	0	1	0	7	22				
SLC12A8	84561	broad.mit.edu	37	3	124811010	124811010	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:124811010C>G	ENST00000393469.4	-	10	1787	c.1738G>C	c.(1738-1740)Gat>Cat	p.D580H	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000469902.1_Missense_Mutation_p.D580H|SLC12A8_ENST00000430155.2_Missense_Mutation_p.D381H|SLC12A8_ENST00000423114.2_Missense_Mutation_p.D609H|SLC12A8_ENST00000314584.7_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	580					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						CTCCAGACATCTTGTTCTTGG	0.418																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1825-1827)Gat>Cat		solute carrier family 12, member 8							83.0	84.0	84.0					3																	124811010		1833	4078	5911	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124811010C>G		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1738G>C	3.37:g.124811010C>G	ENSP00000377112:p.Asp580His					SLC12A8_ENST00000430155.2_Missense_Mutation_p.D381H|SLC12A8_ENST00000469902.1_Missense_Mutation_p.D580H|SLC12A8_ENST00000393469.4_Missense_Mutation_p.D580H|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron	p.D609H			A0AV02	S12A8_HUMAN			11	1824	-			580					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.1825G>C	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180429	0.38511	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.96168	-3.93;-2.4;-2.41;-2.4	4.74	3.86	0.44501	.	.	.	.	.	D	0.94827	0.8329	L	0.47716	1.5	0.80722	D	1	B;P;D	0.54397	0.015;0.832;0.966	B;B;P	0.53809	0.019;0.268;0.735	D	0.93464	0.6813	9	0.35671	T	0.21	.	13.1715	0.59602	0.0:0.8386:0.1614:0.0	.	609;580;381	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	H	381;580;609;580	ENSP00000415713:D381H;ENSP00000377112:D580H;ENSP00000404243:D609H;ENSP00000418783:D580H	ENSP00000377112:D580H	D	-	1	0	SLC12A8	126293700	0.991000	0.36638	0.897000	0.35233	0.048000	0.14542	1.710000	0.37920	1.329000	0.45376	0.557000	0.71058	GAT		0.418	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		9	43	0	0	0	1	0	9	43				
SCP2	6342	broad.mit.edu	37	1	53493743	53493743	+	Splice_Site	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:53493743G>A	ENST00000528311.1	+	12	1391	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	SCP2_ENST00000371509.4_Splice_Site_p.E402E|SCP2_ENST00000488965.1_Splice_Site_p.E42E|SCP2_ENST00000435345.2_Splice_Site_p.E42E|SCP2_ENST00000408941.3_Splice_Site_p.E42E|SCP2_ENST00000371514.3_Splice_Site_p.E446E|SCP2_ENST00000407246.2_Splice_Site_p.E422E|SCP2_ENST00000430330.2_Splice_Site_p.E39E	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	1238					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AACTTGAAGAGGTAAGATTTA	0.388																																						ENST00000488965.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.e2+1		sterol carrier protein 2							41.0	42.0	42.0					1																	53493743		2203	4300	6503	SO:0001630	splice_region_variant	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53493743G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1095+1G>A	1.37:g.53493743G>A						SCP2_ENST00000430330.2_Splice_Site_p.E39_splice|SCP2_ENST00000528311.1_Splice_Site_p.E365_splice|SCP2_ENST00000408941.3_Splice_Site_p.E42_splice|SCP2_ENST00000407246.2_Splice_Site_p.E422_splice|SCP2_ENST00000435345.2_Splice_Site_p.E42_splice|SCP2_ENST00000371509.4_Splice_Site_p.E402_splice|SCP2_ENST00000371514.3_Splice_Site_p.E446_splice	p.E42_splice			P22307	NLTP_HUMAN			2	173	+			446					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000528311.1	37	c.126_splice	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.601492|1.601492	0.28534|0.28534	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000484100|ENST00000478274	.|.	.|.	.|.	5.34|5.34	3.45|3.45	0.39498|0.39498	.|.	.|.	.|.	.|.	.|.	T|T	0.58722|0.58722	0.2142|0.2142	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53344|0.53344	-0.8452|-0.8452	4|4	.|.	.|.	.|.	-8.5196|-8.5196	8.948|8.948	0.35771|0.35771	0.0809:0.1486:0.7705:0.0|0.0809:0.1486:0.7705:0.0	.|.	.|.	.|.	.|.	N|R	61|61	.|.	.|.	D|G	+|+	1|1	0|0	SCP2|SCP2	53266331|53266331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	3.418000|3.418000	0.52721|0.52721	0.733000|0.733000	0.32492|0.32492	-0.150000|-0.150000	0.13652|0.13652	GAT|GGA		0.388	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979	Silent	3	18	0	0	0	1	0	3	18				
KLRG1	10219	broad.mit.edu	37	12	9142258	9142258	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:9142258G>C	ENST00000266551.4	+	1	42	c.27G>C	c.(25-27)atG>atC	p.M9I	KLRG1_ENST00000538029.1_Intron|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000356986.3_Missense_Mutation_p.M9I	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	9					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TTTATTCCATGTTAGAGTTGC	0.413																																						ENST00000266551.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(25-27)atG>atC		killer cell lectin-like receptor subfamily G, member 1							100.0	95.0	96.0					12																	9142258		2203	4300	6503	SO:0001583	missense	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9142258G>C	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.27G>C	12.37:g.9142258G>C	ENSP00000266551:p.Met9Ile					KLRG1_ENST00000538029.1_Intron|KLRG1_ENST00000356986.3_Missense_Mutation_p.M9I|RP11-259O18.4_ENST00000545706.1_RNA	p.M9I	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN			1	42	+			9					B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37	c.27G>C		.	.	.	.	.	.	.	.	.	.	G	4.899	0.167145	0.09339	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.01221	5.15;5.26	3.9	-5.86	0.02304	.	1.731630	0.03115	N	0.163021	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.48570	-0.9024	10	0.52906	T	0.07	4.6645	1.2809	0.02040	0.285:0.2724:0.3075:0.1351	.	9;9	Q96E93;Q96E93-2	KLRG1_HUMAN;.	I	9	ENSP00000349477:M9I;ENSP00000266551:M9I	ENSP00000266551:M9I	M	+	3	0	KLRG1	9033525	0.000000	0.05858	0.000000	0.03702	0.434000	0.31775	-2.699000	0.00825	-1.225000	0.02578	0.650000	0.86243	ATG		0.413	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		7	62	0	0	0	1	0	7	62				
ATP6V1B2	526	broad.mit.edu	37	8	20055047	20055047	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:20055047C>T	ENST00000276390.2	+	1	170	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	44					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CTCCCAGCCTCGCCTCAGTGA	0.652																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(130-132)Cgc>Tgc		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							22.0	28.0	26.0					8																	20055047		2202	4299	6501	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20055047C>T	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.130C>T	8.37:g.20055047C>T	ENSP00000276390:p.Arg44Cys						p.R44C	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	1	170	+			44					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.130C>T	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.534985|3.534985	0.64972|0.64972	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390|ENST00000519667	D|.	0.84660|.	-1.88|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.054129|.	0.64402|.	D|.	0.000002|.	T|T	0.52075|0.52075	0.1712|0.1712	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	P|.	0.55455|.	0.776|.	T|T	0.46176|0.46176	-0.9210|-0.9210	10|5	0.87932|.	D|.	0|.	-16.1557|-16.1557	13.2672|13.2672	0.60141|0.60141	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	44|.	P21281|.	VATB2_HUMAN|.	C|L	44|33	ENSP00000276390:R44C|.	ENSP00000276390:R44C|.	R|S	+|+	1|2	0|0	ATP6V1B2|ATP6V1B2	20099327|20099327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.328000|0.328000	0.28507|0.28507	3.555000|3.555000	0.53727|0.53727	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.652	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		3	10	0	0	0	1	0	3	10				
ENOPH1	58478	broad.mit.edu	37	4	83378153	83378153	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:83378153C>G	ENST00000273920.3	+	5	876	c.608C>G	c.(607-609)tCa>tGa	p.S203*	ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.S115*	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						ATTGGGTGCTCAACCAACAAC	0.393																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(607-609)tCa>tGa		enolase-phosphatase 1							167.0	161.0	163.0					4																	83378153		2203	4300	6503	SO:0001587	stop_gained	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83378153C>G		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.608C>G	4.37:g.83378153C>G	ENSP00000273920:p.Ser203*					ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.S115*	p.S203*	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			5	876	+			203						Nonsense_Mutation	SNP	ENST00000273920.3	37	c.608C>G	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	c	36	5.633291	0.96682	.	.	ENSG00000145293	ENST00000273920;ENST00000509635	.	.	.	5.37	5.37	0.77165	.	0.504572	0.22324	N	0.061560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-6.892	9.3429	0.38091	0.1446:0.7819:0.0:0.0736	.	.	.	.	X	203;115	.	ENSP00000273920:S203X	S	+	2	0	ENOPH1	83597177	0.315000	0.24571	0.998000	0.56505	0.499000	0.33736	1.043000	0.30316	2.672000	0.90937	0.585000	0.79938	TCA		0.393	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		9	58	0	0	0	1	0	9	58				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			9	45	0	0	0	1	0	9	45				
SLC26A3	1811	broad.mit.edu	37	7	107430085	107430085	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:107430085C>G	ENST00000340010.5	-	6	803	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E172Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	207					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGAGGGACTCAGACAGGTAT	0.443																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(619-621)Gag>Cag		solute carrier family 26 (anion exchanger), member 3							70.0	58.0	62.0					7																	107430085		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107430085C>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.619G>C	7.37:g.107430085C>G	ENSP00000345873:p.Glu207Gln					SLC26A3_ENST00000422236.2_Missense_Mutation_p.E172Q	p.E207Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			6	803	-			207						Missense_Mutation	SNP	ENST00000340010.5	37	c.619G>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413805	0.42817	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93019	-3.15;-3.15	5.38	4.45	0.53987	Sulphate transporter (1);	0.309746	0.38381	N	0.001711	D	0.92374	0.7580	M	0.62016	1.91	0.43080	D	0.994732	B;B	0.24092	0.097;0.097	B;B	0.32342	0.061;0.144	D	0.91146	0.4949	10	0.52906	T	0.07	.	14.8046	0.69942	0.0:0.7691:0.2309:0.0	.	172;207	G5E9U3;P40879	.;S26A3_HUMAN	Q	172;207	ENSP00000415817:E172Q;ENSP00000345873:E207Q	ENSP00000345873:E207Q	E	-	1	0	SLC26A3	107217321	1.000000	0.71417	0.663000	0.29738	0.633000	0.38033	4.634000	0.61325	2.515000	0.84797	0.557000	0.71058	GAG		0.443	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		4	16	0	0	0	1	0	4	16				
AGTPBP1	23287	broad.mit.edu	37	9	88204527	88204527	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr9:88204527C>T	ENST00000357081.3	-	20	2782	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E892K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E840K|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	880					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GACAGGGTTTCACATAACACA	0.353																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2638-2640)Gaa>Aaa		ATP/GTP binding protein 1							126.0	119.0	121.0					9																	88204527		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88204527C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2638G>A	9.37:g.88204527C>T	ENSP00000349592:p.Glu880Lys					AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E840K|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E892K	p.E880K			Q9UPW5	CBPC1_HUMAN			20	2782	-			880					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2638G>A		.	.	.	.	.	.	.	.	.	.	C	15.23	2.772067	0.49680	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.08008	3.14;3.14;3.14	5.96	5.96	0.96718	Peptidase M14, carboxypeptidase A (1);	0.242319	0.48767	D	0.000179	T	0.06872	0.0175	N	0.10945	0.07	0.80722	D	1	B;B;B	0.26809	0.005;0.16;0.049	B;B;B	0.25987	0.021;0.065;0.021	T	0.47983	-0.9074	10	0.30854	T	0.27	-23.1236	20.422	0.99049	0.0:1.0:0.0:0.0	.	892;880;840	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	K	880;840;892	ENSP00000349592:E880K;ENSP00000365251:E840K;ENSP00000365277:E892K	ENSP00000349592:E880K	E	-	1	0	AGTPBP1	87394347	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.746000	0.55127	2.832000	0.97577	0.655000	0.94253	GAA		0.353	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		8	58	0	0	0	1	0	8	58				
CEP83	51134	broad.mit.edu	37	12	94769780	94769780	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:94769780G>A	ENST00000397809.5	-	8	1364	c.815C>T	c.(814-816)tCa>tTa	p.S272L	CCDC41_ENST00000339839.5_Missense_Mutation_p.S272L|CCDC41_ENST00000397807.2_Missense_Mutation_p.S239L|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.S272L	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		264					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TAAATTAGCTGATTGTTTTTC	0.259																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(814-816)tCa>tTa		coiled-coil domain containing 41							62.0	57.0	58.0					12																	94769780		1800	4065	5865	SO:0001583	missense	51134							g.chr12:94769780G>A																												ENST00000397809.5:c.815C>T	12.37:g.94769780G>A	ENSP00000380911:p.Ser272Leu					CCDC41_ENST00000397807.2_Missense_Mutation_p.S239L|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.S272L|CCDC41_ENST00000339839.5_Missense_Mutation_p.S272L	p.S272L	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			8	1364	-			264					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.815C>T	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840581	0.71488	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.37	5.37	0.77165	.	.	.	.	.	T	0.37999	0.1024	M	0.63843	1.955	0.49915	D	0.999839	P;D;B	0.55800	0.787;0.973;0.286	B;P;B	0.47864	0.322;0.559;0.128	T	0.22730	-1.0208	9	0.56958	D	0.05	-7.1521	19.1187	0.93353	0.0:0.0:1.0:0.0	.	272;239;264	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	L	272;272;239;272	ENSP00000344655:S272L;ENSP00000380911:S272L;ENSP00000380909:S239L;ENSP00000448913:S272L	ENSP00000344655:S272L	S	-	2	0	CCDC41	93293911	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	7.993000	0.88291	2.530000	0.85305	0.557000	0.71058	TCA		0.259	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			4	42	0	0	0	1	0	4	42				
MYO18B	84700	broad.mit.edu	37	22	26239822	26239822	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr22:26239822C>G	ENST00000407587.2	+	18	3501	c.3332C>G	c.(3331-3333)tCg>tGg	p.S1111W	MYO18B_ENST00000536101.1_Missense_Mutation_p.S1110W|MYO18B_ENST00000335473.7_Missense_Mutation_p.S1110W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1110	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAACCTCTCGGCCCTGGAT	0.607																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3328-3330)tCg>tGg		myosin XVIIIB							42.0	43.0	43.0					22																	26239822		1961	4127	6088	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26239822C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3332C>G	22.37:g.26239822C>G	ENSP00000386096:p.Ser1111Trp					MYO18B_ENST00000536101.1_Missense_Mutation_p.S1110W|MYO18B_ENST00000407587.2_Missense_Mutation_p.S1111W	p.S1110W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			18	3579	+			1110			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3329C>G		.	.	.	.	.	.	.	.	.	.	C	17.22	3.334853	0.60853	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88586	-2.4;-2.4;-2.4	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.233886	0.37053	N	0.002265	D	0.94394	0.8197	M	0.84326	2.69	0.25112	N	0.990702	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.996;0.998	D	0.88614	0.3158	10	0.87932	D	0	.	14.8836	0.70550	0.0:1.0:0.0:0.0	.	623;1110;1111;1110	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	1110;1110;1111	ENSP00000441229:S1110W;ENSP00000334563:S1110W;ENSP00000386096:S1111W	ENSP00000334563:S1110W	S	+	2	0	MYO18B	24569822	0.621000	0.27077	0.017000	0.16124	0.715000	0.41141	6.816000	0.75247	2.373000	0.80994	0.650000	0.86243	TCG		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	47	0	0	0	1	0	10	47				
PDE4DIP	9659	broad.mit.edu	37	1	145074987	145074987	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:145074987C>T	ENST00000369345.4	-	2	521	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		TCTTCCAGGCCAAAGCAAAGG	0.453			T	PDGFRB	MPD																																	ENST00000369345.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				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						c.(307-309)Ggc>Agc		phosphodiesterase 4D interacting protein							94.0	92.0	92.0					1																	145074987		876	1991	2867	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145074987C>T	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	ENST00000369345.4:c.307G>A	1.37:g.145074987C>T	ENSP00000358351:p.Gly103Ser					PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron	p.G103S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	2	521	-			0					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	ENST00000369345.4	37	c.307G>A		.	.	.	.	.	.	.	.	.	.	C	11.84	1.759301	0.31137	.	.	ENSG00000178104	ENST00000369345	.	.	.	3.21	3.21	0.36854	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.13019	-1.0525	7	0.87932	D	0	.	10.1958	0.43054	0.0:1.0:0.0:0.0	.	103	Q5TB27	.	S	103	.	ENSP00000358351:G103S	G	-	1	0	PDE4DIP	143786344	0.019000	0.18553	0.034000	0.17996	0.376000	0.30014	2.750000	0.47500	2.111000	0.64477	0.561000	0.74099	GGC		0.453	PDE4DIP-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000038864.2	NM_022359		6	38	0	0	0	1	0	6	38				
FLG	2312	broad.mit.edu	37	1	152277857	152277857	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:152277857C>T	ENST00000368799.1	-	3	9540	c.9505G>A	c.(9505-9507)Gaa>Aaa	p.E3169K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3169	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTCCTCATTACGT	0.552									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9505-9507)Gaa>Aaa		filaggrin							283.0	282.0	282.0					1																	152277857		2201	4300	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277857C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9505G>A	1.37:g.152277857C>T	ENSP00000357789:p.Glu3169Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E3169K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9540	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3169			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9505G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823757	0.32237	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.01	-0.202	0.13208	.	.	.	.	.	T	0.00815	0.0027	M	0.79805	2.47	0.09310	N	1	B	0.28324	0.207	B	0.30105	0.111	T	0.47045	-0.9147	9	0.15499	T	0.54	.	2.8149	0.05453	0.0:0.443:0.2508:0.3062	.	3169	P20930	FILA_HUMAN	K	3169	ENSP00000357789:E3169K	ENSP00000357789:E3169K	E	-	1	0	FLG	150544481	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.156000	0.10100	0.097000	0.17492	0.449000	0.29647	GAA		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	411	0	0	0	1	0	5	411				
KIF21A	55605	broad.mit.edu	37	12	39726736	39726736	+	Silent	SNP	C	C	T	rs148846158	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:39726736C>T	ENST00000361418.5	-	19	2676	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	KIF21A_ENST00000541463.2_Silent_p.A851A|KIF21A_ENST00000395670.3_Silent_p.A887A|KIF21A_ENST00000544797.2_Silent_p.A874A|KIF21A_ENST00000361961.3_Silent_p.A874A			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	887					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTGGACTCTCGCCACAGGAA	0.488																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2659-2661)gcG>gcA		kinesin family member 21A		C	,,,	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		2622,2661,2553,2622	-3.0	0.9	12	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF21A	NM_001173463.1,NM_001173464.1,NM_001173465.1,NM_017641.3	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	874/1638,887/1675,851/1622,874/1662	39726736	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726736C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2661G>A	12.37:g.39726736C>T						KIF21A_ENST00000361418.5_Silent_p.A887A|KIF21A_ENST00000541463.2_Silent_p.A851A|KIF21A_ENST00000544797.2_Silent_p.A874A|KIF21A_ENST00000361961.3_Silent_p.A874A	p.A887A			Q7Z4S6	KI21A_HUMAN			19	3080	-		Lung NSC(34;0.179)|all_lung(34;0.213)	887					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.2661G>A	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	7.402	0.633059	0.14322	2.27E-4	1.16E-4	ENSG00000139116	ENST00000552961	.	.	.	5.58	-2.97	0.05530	.	.	.	.	.	T	0.51041	0.1651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	.	7.6186	0.28173	0.0:0.2717:0.4628:0.2655	.	.	.	.	Q	235	.	.	R	-	2	0	KIF21A	38013003	0.078000	0.21339	0.876000	0.34364	0.708000	0.40852	-0.647000	0.05397	-0.820000	0.04318	-0.484000	0.04775	CGA		0.488	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	35	0	0	0	1	0	8	35				
C1orf56	54964	broad.mit.edu	37	1	151021313	151021313	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:151021313C>T	ENST00000368926.5	+	1	1098	c.990C>T	c.(988-990)ttC>ttT	p.F330F	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	330						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCAGTGTTCACAGAGATGC	0.532											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(988-990)ttC>ttT		chromosome 1 open reading frame 56							79.0	77.0	77.0					1																	151021313		2203	4300	6503	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151021313C>T	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.990C>T	1.37:g.151021313C>T			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.F330F	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	1098	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		330					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.990C>T	CCDS980.1																																																																																				0.532	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		32	67	0	0	0	1	0	32	67				
LRRC73	221424	broad.mit.edu	37	6	43475308	43475308	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:43475308C>G	ENST00000372441.1	-	5	1666	c.766G>C	c.(766-768)Gag>Cag	p.E256Q		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	256	Poly-Glu.																TCCTCTCCCTCAGAGAGGAGG	0.607																																						ENST00000372441.1																			0											c.(766-768)Gag>Cag		leucine rich repeat containing 73							39.0	45.0	43.0					6																	43475308		2192	4295	6487	SO:0001583	missense	221424							g.chr6:43475308C>G		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.766G>C	6.37:g.43475308C>G	ENSP00000361518:p.Glu256Gln						p.E256Q	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1666	-			256			Poly-Glu.			Missense_Mutation	SNP	ENST00000372441.1	37	c.766G>C	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191618	0.78902	.	.	ENSG00000204052	ENST00000372441	T	0.51574	0.7	5.88	5.88	0.94601	.	0.215582	0.47093	D	0.000248	T	0.39145	0.1067	L	0.57536	1.79	0.80722	D	1	P	0.51057	0.941	P	0.45377	0.478	T	0.16129	-1.0413	10	0.15499	T	0.54	-15.5202	20.2422	0.98381	0.0:1.0:0.0:0.0	.	256	Q5JTD7	CF154_HUMAN	Q	256	ENSP00000361518:E256Q	ENSP00000361518:E256Q	E	-	1	0	C6orf154	43583286	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.765000	0.68834	2.782000	0.95742	0.655000	0.94253	GAG		0.607	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		5	53	0	0	0	1	0	5	53				
MEX3B	84206	broad.mit.edu	37	15	82336770	82336770	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:82336770G>C	ENST00000329713.4	-	2	876	c.441C>G	c.(439-441)ctC>ctG	p.L147L	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	147					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCGCGCCGTTGAGTGCCGTGT	0.672																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(439-441)ctC>ctG		mex-3 RNA binding family member B							45.0	45.0	45.0					15																	82336770		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336770G>C	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.441C>G	15.37:g.82336770G>C						MEX3B_ENST00000558133.1_3'UTR	p.L147L	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	876	-			147					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.441C>G	CCDS10319.1																																																																																				0.672	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		12	44	0	0	0	1	0	12	44				
RAC2	5880	broad.mit.edu	37	22	37637671	37637671	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr22:37637671G>C	ENST00000249071.6	-	2	184	c.63C>G	c.(61-63)atC>atG	p.I21M	RAC2_ENST00000401529.3_Missense_Mutation_p.I21M|RAC2_ENST00000405484.1_Missense_Mutation_p.I14M|RAC2_ENST00000406508.1_De_novo_Start_InFrame	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	21					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I21M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TGGTGTAGCTGATGAGAAGGC	0.617																																						ENST00000249071.6																			1	Substitution - Missense(1)	p.I21M(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(61-63)atC>atG		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							195.0	180.0	185.0					22																	37637671		2203	4300	6503	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37637671G>C	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.63C>G	22.37:g.37637671G>C	ENSP00000249071:p.Ile21Met					RAC2_ENST00000405484.1_Missense_Mutation_p.I14M|RAC2_ENST00000401529.3_Missense_Mutation_p.I21M|RAC2_ENST00000406508.1_De_novo_Start_InFrame	p.I21M	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			2	184	-			21					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.63C>G	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344914	0.95807	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85860	0.5795	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.86629	0.1884	10	0.87932	D	0	.	19.2401	0.93879	0.0:0.0:1.0:0.0	.	21	P15153	RAC2_HUMAN	M	21;14;21;21	ENSP00000249071:I21M;ENSP00000385590:I14M;ENSP00000403778:I21M;ENSP00000385666:I21M	ENSP00000249071:I21M	I	-	3	3	RAC2	35967617	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.512000	0.98008	2.647000	0.89833	0.655000	0.94253	ATC		0.617	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			15	73	0	0	0	1	0	15	73				
MSC	9242	broad.mit.edu	37	8	72754970	72754970	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:72754970C>T	ENST00000325509.4	-	2	836	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'Flank|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	183					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCCGAGACCACGAATGGCCAT	0.478																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(547-549)Gtg>Atg		musculin							255.0	251.0	252.0					8																	72754970		1922	4135	6057	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754970C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.547G>A	8.37:g.72754970C>T	ENSP00000321445:p.Val183Met					RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	p.V183M	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	836	-	Breast(64;0.176)		183					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.547G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922124	0.17982	.	.	ENSG00000178860	ENST00000325509	D	0.97731	-4.51	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.069321	0.64402	D	0.000012	D	0.90631	0.7062	N	0.12182	0.205	0.51233	D	0.999915	P	0.45176	0.852	B	0.26202	0.067	D	0.90725	0.4638	10	0.23891	T	0.37	.	12.626	0.56630	0.0:0.9206:0.0:0.0794	.	183	O60682	MUSC_HUMAN	M	183	ENSP00000321445:V183M	ENSP00000321445:V183M	V	-	1	0	MSC	72917524	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.278000	0.33179	2.559000	0.86315	0.462000	0.41574	GTG		0.478	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		49	337	0	0	0	1	0	49	337				
MDM2	4193	broad.mit.edu	37	12	69229700	69229700	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:69229700C>A	ENST00000350057.5	+	7	683	c.683C>A	c.(682-684)tCt>tAt	p.S228Y	MDM2_ENST00000428863.2_Missense_Mutation_p.S58Y|MDM2_ENST00000356290.4_Missense_Mutation_p.S83Y|MDM2_ENST00000540827.1_Missense_Mutation_p.S58Y|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S198Y|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S259Y|MDM2_ENST00000258148.7_Missense_Mutation_p.S204Y|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.S53Y|MDM2_ENST00000360430.2_Missense_Mutation_p.S58Y|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S83Y|MDM2_ENST00000478070.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	253	ARF-binding.|Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.|Interaction with USP7.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAAGTTGAATCTCTCGACTCA	0.358			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(775-777)tCt>tAt		MDM2 oncogene, E3 ubiquitin protein ligase							168.0	160.0	163.0					12																	69229700		1851	4107	5958	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69229700C>A		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.683C>A	12.37:g.69229700C>A	ENSP00000266624:p.Ser228Tyr					MDM2_ENST00000348801.2_Missense_Mutation_p.S53Y|MDM2_ENST00000299252.4_Missense_Mutation_p.S83Y|MDM2_ENST00000258149.5_Missense_Mutation_p.S198Y|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.S58Y|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S58Y|MDM2_ENST00000356290.4_Missense_Mutation_p.S83Y|MDM2_ENST00000350057.5_Missense_Mutation_p.S228Y|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S204Y|MDM2_ENST00000540827.1_Missense_Mutation_p.S58Y	p.S259Y	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1078	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		253			ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.776C>A		.	.	.	.	.	.	.	.	.	.	C	24.4	4.531057	0.85706	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000543323;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430;ENST00000348801	T;T;T;T;T;T;T;T;T;T;T	0.56941	1.26;0.72;0.7;0.73;0.58;0.71;0.43;1.27;0.7;0.73;0.64	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.99;0.986;0.999	T	0.69658	-0.5086	9	.	.	.	-20.4159	18.8803	0.92353	0.0:1.0:0.0:0.0	.	208;58;83;204;58;259	Q00987-9;Q00987-3;Q00987-5;G3XA89;Q00987-2;Q00987-11	.;.;.;.;.;.	Y	259;208;198;83;58;58;83;214;204;253;83;83;228;83;58;53	ENSP00000417281:S259Y;ENSP00000258149:S198Y;ENSP00000348637:S83Y;ENSP00000440932:S58Y;ENSP00000410694:S58Y;ENSP00000258148:S204Y;ENSP00000444430:S253Y;ENSP00000266624:S228Y;ENSP00000299252:S83Y;ENSP00000353611:S58Y;ENSP00000335096:S53Y	.	S	+	2	0	MDM2	67515967	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	6.836000	0.75349	2.529000	0.85273	0.585000	0.79938	TCT		0.358	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		25	37	1	0	2.79863e-10	1	3.06546e-10	25	37				
OXTR	5021	broad.mit.edu	37	3	8794849	8794849	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:8794849G>C	ENST00000316793.3	-	4	1608	c.984C>G	c.(982-984)atC>atG	p.I328M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	328					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	ACAGCATGTAGATCCAGGGGT	0.612																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(982-984)atC>atG		oxytocin receptor	Carbetocin(DB01282)						68.0	61.0	64.0					3																	8794849		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794849G>C		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.984C>G	3.37:g.8794849G>C	ENSP00000324270:p.Ile328Met					CAV3_ENST00000472766.1_Intron	p.I328M	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1608	-			328					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.984C>G	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845691	0.91197	.	.	ENSG00000180914	ENST00000316793	T	0.57273	0.41	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87451	0.2401	10	0.87932	D	0	-48.4497	17.3169	0.87227	0.0:0.0:1.0:0.0	.	328	P30559	OXYR_HUMAN	M	328	ENSP00000324270:I328M	ENSP00000324270:I328M	I	-	3	3	OXTR	8769849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.451000	0.66632	2.655000	0.90218	0.655000	0.94253	ATC		0.612	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			12	46	0	0	0	1	0	12	46				
ZFP64	55734	broad.mit.edu	37	20	50776913	50776913	+	Splice_Site	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:50776913C>G	ENST00000216923.4	-	5	861	c.512G>C	c.(511-513)gGa>gCa	p.G171A	ZFP64_ENST00000346617.4_Splice_Site_p.G117A|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Splice_Site_p.G171A|ZFP64_ENST00000371518.2_Splice_Site_p.G171A|ZFP64_ENST00000371515.4_Splice_Site_p.G169A	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	171					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGTTTGTCTCCTTCAAACAC	0.458																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e5-1		ZFP64 zinc finger protein							117.0	112.0	114.0					20																	50776913		2203	4300	6503	SO:0001630	splice_region_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776913C>G	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.512-1G>C	20.37:g.50776913C>G						ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Splice_Site_p.G171_splice|ZFP64_ENST00000371515.4_Splice_Site_p.G169_splice|ZFP64_ENST00000361387.2_Splice_Site_p.G171_splice|ZFP64_ENST00000346617.4_Splice_Site_p.G117_splice	p.G171_splice	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			5	861	-			171					Q9NTS7|Q9NVH4	Splice_Site	SNP	ENST00000216923.4	37	c.511_splice	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804219	0.90623	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.5	5.5	0.81552	Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.52532	D	0.000065	T	0.51466	0.1676	M	0.62016	1.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.50955	-0.8766	10	0.72032	D	0.01	.	19.4018	0.94632	0.0:1.0:0.0:0.0	.	117;169;171;171	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	A	171;171;171;117;169;13;324	ENSP00000360573:G171A;ENSP00000355179:G171A;ENSP00000216923:G171A;ENSP00000344615:G117A;ENSP00000360570:G169A	ENSP00000216923:G171A	G	-	2	0	ZFP64	50210320	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.298000	0.78815	2.602000	0.87976	0.591000	0.81541	GGA		0.458	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	Missense_Mutation	4	128	0	0	0	1	0	4	128				
NRXN1	9378	broad.mit.edu	37	2	50758384	50758384	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:50758384C>T	ENST00000406316.2	-	11	3804	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V	NRXN1_ENST00000406859.3_Silent_p.V776V|NRXN1_ENST00000402717.3_Silent_p.V768V|NRXN1_ENST00000405472.3_Silent_p.V768V|NRXN1_ENST00000404971.1_Silent_p.V816V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.V776V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	776	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGTCAGTTTCACACGTCCTG	0.483																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2446-2448)gtG>gtA		neurexin 1							69.0	73.0	72.0					2																	50758384		2035	4208	6243	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50758384C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2328G>A	2.37:g.50758384C>T						NRXN1_ENST00000406859.3_Silent_p.V776V|NRXN1_ENST00000401669.2_Silent_p.V776V|NRXN1_ENST00000405472.3_Silent_p.V768V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.V776V|NRXN1_ENST00000402717.3_Silent_p.V768V	p.V816V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		12	3787	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	776			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2448G>A	CCDS54360.1																																																																																				0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	34	0	0	0	1	0	4	34				
PAFAH1B1	5048	broad.mit.edu	37	17	2585085	2585085	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:2585085G>C	ENST00000397195.5	+	11	1673	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.E203Q|RP11-74E22.5_ENST00000610120.1_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AAAAGTGTGGGAGTGCCGTTG	0.448																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1222-1224)Gag>Cag		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							142.0	113.0	123.0					17																	2585085		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2585085G>C	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1222G>C	17.37:g.2585085G>C	ENSP00000380378:p.Glu408Gln					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.E203Q	p.E408Q	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			11	1673	+			408			Interaction with DCX.|Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.1222G>C	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954450	0.73902	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.61158	0.13;0.13	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	L	0.42581	1.335	0.80722	D	1	P;P	0.46706	0.882;0.883	P;B	0.51079	0.658;0.318	T	0.65475	-0.6159	10	0.72032	D	0.01	.	18.9908	0.92791	0.0:0.0:1.0:0.0	.	203;408	B4DF38;P43034	.;LIS1_HUMAN	Q	408;237;203	ENSP00000380378:E408Q;ENSP00000395628:E203Q	ENSP00000380377:E237Q	E	+	1	0	PAFAH1B1	2531835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.722000	0.93159	0.650000	0.86243	GAG		0.448	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		7	20	0	0	0	1	0	7	20				
POM121L12	285877	broad.mit.edu	37	7	53104198	53104198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:53104198C>A	ENST00000408890.4	+	1	850	c.834C>A	c.(832-834)tgC>tgA	p.C278*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	278										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGGCAGCTGCAGTAGGGTCT	0.622																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(832-834)tgC>tgA		POM121 transmembrane nucleoporin-like 12							42.0	48.0	46.0					7																	53104198		2002	4167	6169	SO:0001587	stop_gained	285877							g.chr7:53104198C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.834C>A	7.37:g.53104198C>A	ENSP00000386133:p.Cys278*						p.C278*	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	850	+			278					Q8NDI9	Nonsense_Mutation	SNP	ENST00000408890.4	37	c.834C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335955	0.41398	.	.	ENSG00000221900	ENST00000408890	.	.	.	2.16	0.072	0.14385	.	.	.	.	.	.	.	.	.	.	.	0.24261	N	0.995288	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5236	0.07751	0.0:0.5679:0.2637:0.1684	.	.	.	.	X	278	.	ENSP00000386133:C278X	C	+	3	2	POM121L12	53071692	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.306000	0.19279	0.012000	0.14892	0.561000	0.74099	TGC		0.622	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	71	1	0	1.58986e-06	1	1.69631e-06	10	71				
NR2C2AP	126382	broad.mit.edu	37	19	19313613	19313613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:19313613C>T	ENST00000331552.7	-	2	479	c.116G>A	c.(115-117)tGg>tAg	p.W39*	NR2C2AP_ENST00000420605.3_Nonsense_Mutation_p.W39*|NR2C2AP_ENST00000544883.1_Nonsense_Mutation_p.W39*|NR2C2AP_ENST00000538165.2_Nonsense_Mutation_p.W39*	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	39					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GTCTGAGTTCCAACATGTCTC	0.542																																						ENST00000331552.6																			0				breast(1)|cervix(1)|kidney(2)|ovary(1)	5						c.(115-117)tGg>tAg		nuclear receptor 2C2-associated protein							122.0	112.0	116.0					19																	19313613		2203	4300	6503	SO:0001587	stop_gained	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19313613C>T	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.116G>A	19.37:g.19313613C>T	ENSP00000332823:p.Trp39*					NR2C2AP_ENST00000544883.1_Nonsense_Mutation_p.W39*|NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000420605.2_Nonsense_Mutation_p.W39*|NR2C2AP_ENST00000538165.2_Nonsense_Mutation_p.W39*	p.W39*	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		2	479	-			39					A6NGP7|B4DW92	Nonsense_Mutation	SNP	ENST00000331552.7	37	c.116G>A	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	C	37	6.317522	0.97467	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8284	11.6738	0.51417	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000332823:W39X	W	-	2	0	NR2C2AP	19174613	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	6.176000	0.71955	2.121000	0.65114	0.462000	0.41574	TGG		0.542	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		9	49	0	0	0	1	0	9	49				
CEACAM20	125931	broad.mit.edu	37	19	45028269	45028269	+	RNA	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:45028269G>A	ENST00000454753.1	-	0	500							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGCCTGGGCTGACTGCAATGG	0.527																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							99.0	94.0	95.0					19																	45028269		2066	4216	6282			125931					integral to membrane		g.chr19:45028269G>A	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45028269G>A										Q6UY09	CEA20_HUMAN			0	500	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.527	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		10	64	0	0	0	1	0	10	64				
LRRC4C	57689	broad.mit.edu	37	11	40137136	40137136	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:40137136G>C	ENST00000278198.2	-	2	2670	c.707C>G	c.(706-708)cCt>cGt	p.P236R	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P236R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P236R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P236R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	236					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAAGAGCCAGGCCTGATGGC	0.458																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(706-708)cCt>cGt		leucine rich repeat containing 4C							81.0	80.0	80.0					11																	40137136		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137136G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.707C>G	11.37:g.40137136G>C	ENSP00000278198:p.Pro236Arg					LRRC4C_ENST00000527150.1_Missense_Mutation_p.P236R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P236R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P236R	p.P236R			Q9HCJ2	LRC4C_HUMAN			2	2670	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	236					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.707C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738615	0.49045	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	L	0.38733	1.17	0.80722	D	1	P	0.48407	0.91	B	0.35770	0.21	T	0.40942	-0.9536	10	0.35671	T	0.21	.	18.2645	0.90048	0.0:0.0:1.0:0.0	.	236	Q9HCJ2	LRC4C_HUMAN	R	236	ENSP00000278198:P236R;ENSP00000436976:P236R;ENSP00000437132:P236R;ENSP00000434761:P236R	ENSP00000278198:P236R	P	-	2	0	LRRC4C	40093712	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.561000	0.86390	0.650000	0.86243	CCT		0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		33	63	0	0	0	1	0	33	63				
DEFB118	117285	broad.mit.edu	37	20	29960737	29960737	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:29960737G>C	ENST00000253381.2	+	2	169	c.136G>C	c.(136-138)Gat>Cat	p.D46H		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	46					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGTGAAAGATACATGCAA	0.453																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(136-138)Gat>Cat		defensin, beta 118							132.0	118.0	123.0					20																	29960737		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960737G>C	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.136G>C	20.37:g.29960737G>C	ENSP00000253381:p.Asp46His						p.D46H	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	169	+	all_hematologic(12;0.158)		46					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.136G>C	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901390	0.17760	.	.	ENSG00000131068	ENST00000253381	T	0.11604	2.76	3.82	-6.77	0.01727	.	2.183680	0.02272	N	0.068561	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.35470	0.203	T	0.29912	-0.9996	10	0.42905	T	0.14	-9.6027	1.8319	0.03132	0.4473:0.2437:0.1857:0.1232	.	46	Q96PH6	DB118_HUMAN	H	46	ENSP00000253381:D46H	ENSP00000253381:D46H	D	+	1	0	DEFB118	29424398	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.308000	0.01131	-1.584000	0.01636	-0.136000	0.14681	GAT		0.453	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		10	77	0	0	0	1	0	10	77				
CPNE8	144402	broad.mit.edu	37	12	39079378	39079378	+	Silent	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:39079378C>A	ENST00000331366.5	-	16	1281	c.1185G>T	c.(1183-1185)ggG>ggT	p.G395G	CPNE8_ENST00000538596.2_Silent_p.G64G|CPNE8_ENST00000360449.3_Silent_p.G383G	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	395	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCTCCATGACCCCCTCAATGC	0.388																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1183-1185)ggG>ggT		copine VIII							133.0	138.0	136.0					12																	39079378		2203	4300	6503	SO:0001819	synonymous_variant	144402							g.chr12:39079378C>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1185G>T	12.37:g.39079378C>A						CPNE8_ENST00000360449.3_Silent_p.G383G|CPNE8_ENST00000538596.2_Silent_p.G64G	p.G395G	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			16	1281	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	395			VWFA.		Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.1185G>T	CCDS8733.1																																																																																				0.388	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		13	73	1	0	5.01169e-05	1	5.20121e-05	13	73				
USP34	9736	broad.mit.edu	37	2	61546322	61546322	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:61546322G>C	ENST00000398571.2	-	22	3230	c.3154C>G	c.(3154-3156)Ctt>Gtt	p.L1052V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1052					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)			TCCAGGAAAAGATGTTTGTAG	0.323																																						ENST00000398571.2																			0				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						c.(3154-3156)Ctt>Gtt		ubiquitin specific peptidase 34							112.0	103.0	106.0					2																	61546322		1852	4093	5945	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.chr2:61546322G>C	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.3154C>G	2.37:g.61546322G>C	ENSP00000381577:p.Leu1052Val						p.L1052V	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		22	3230	-			1052					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3154C>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504864	0.85176	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04603	3.59	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	L	0.57536	1.79	0.58432	D	0.999993	P	0.38148	0.62	B	0.28638	0.092	T	0.05733	-1.0867	10	0.72032	D	0.01	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1052	Q70CQ2	UBP34_HUMAN	V	900;900;1052	ENSP00000381577:L1052V	ENSP00000263989:L900V	L	-	1	0	USP34	61399826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	2.847000	0.97988	0.591000	0.81541	CTT		0.323	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	84	0	0	0	1	0	7	84				
ZNF211	10520	broad.mit.edu	37	19	58152590	58152590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:58152590C>T	ENST00000347302.3	+	3	915	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	ZNF211_ENST00000541801.1_Nonsense_Mutation_p.Q237*|ZNF211_ENST00000420680.1_Nonsense_Mutation_p.Q250*|ZNF211_ENST00000391703.3_Nonsense_Mutation_p.Q185*|ZNF211_ENST00000299871.5_Nonsense_Mutation_p.Q311*|ZNF211_ENST00000254182.7_Nonsense_Mutation_p.Q237*|ZNF211_ENST00000544273.1_Nonsense_Mutation_p.Q258*|ZNF211_ENST00000240731.4_Nonsense_Mutation_p.Q259*	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	246					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACTTGTTCAGGACCAGAG	0.433																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(772-774)Cag>Tag		zinc finger protein 211							95.0	95.0	95.0					19																	58152590		2203	4300	6503	SO:0001587	stop_gained	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152590C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.736C>T	19.37:g.58152590C>T	ENSP00000339562:p.Gln246*					ZNF211_ENST00000254182.7_Nonsense_Mutation_p.Q237*|ZNF211_ENST00000299871.5_Nonsense_Mutation_p.Q311*|ZNF211_ENST00000391703.3_Nonsense_Mutation_p.Q185*|ZNF211_ENST00000347302.3_Nonsense_Mutation_p.Q246*|ZNF211_ENST00000420680.1_Nonsense_Mutation_p.Q250*|ZNF211_ENST00000240731.4_Nonsense_Mutation_p.Q259*|ZNF211_ENST00000541801.1_Nonsense_Mutation_p.Q237*	p.Q258*			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1099	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	246					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Nonsense_Mutation	SNP	ENST00000347302.3	37	c.772C>T	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130885|4.130885	0.77549|0.77549	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	.|.	.|.	.|.	2.84|2.84	1.78|1.78	0.24846|0.24846	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56558	.|0.1993	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51340	.|-0.8718	.|4	0.35671|.	T|.	0.21|.	.|.	8.9682|8.9682	0.35890|0.35890	0.0:0.5126:0.4874:0.0|0.0:0.5126:0.4874:0.0	.|.	.|.	.|.	.|.	X|L	250;246;237;185;237;311;258;259|249	.|.	ENSP00000240731:Q259X|.	Q|S	+|+	1|2	0|0	ZNF211|ZNF211	62844402|62844402	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.778000|0.778000	0.44026|0.44026	-0.974000|-0.974000	0.03794|0.03794	0.768000|0.768000	0.33290|0.33290	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.433	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			20	97	0	0	0	1	0	20	97				
ARNT2	9915	broad.mit.edu	37	15	80843596	80843596	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:80843596G>A	ENST00000303329.4	+	9	1099	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	ARNT2_ENST00000533983.1_Missense_Mutation_p.V301M|ARNT2_ENST00000527771.1_Missense_Mutation_p.V301M	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	312					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATATTGCCTCGTGGCAATTGG	0.438																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(901-903)Gtg>Atg		aryl-hydrocarbon receptor nuclear translocator 2							108.0	99.0	102.0					15																	80843596		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80843596G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.934G>A	15.37:g.80843596G>A	ENSP00000307479:p.Val312Met					ARNT2_ENST00000527771.1_Missense_Mutation_p.V301M|ARNT2_ENST00000303329.4_Missense_Mutation_p.V312M	p.V301M			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		10	1240	+			312					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.901G>A	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720794	0.89205	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.10860	2.83	4.9	4.9	0.64082	.	0.187239	0.45867	D	0.000328	T	0.42063	0.1186	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.55029	-0.8204	10	0.87932	D	0	.	18.0935	0.89481	0.0:0.0:1.0:0.0	.	312	Q9HBZ2	ARNT2_HUMAN	M	301;312;312	ENSP00000307479:V312M	ENSP00000307479:V312M	V	+	1	0	ARNT2	78630651	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	8.566000	0.90734	2.263000	0.75096	0.655000	0.94253	GTG		0.438	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			22	51	0	0	0	1	0	22	51				
CNKSR1	10256	broad.mit.edu	37	1	26513716	26513716	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:26513716G>A	ENST00000374253.5	+	15	1426	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	CNKSR1_ENST00000531191.1_Missense_Mutation_p.D198N|CNKSR1_ENST00000361530.6_Missense_Mutation_p.D456N	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	463	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTGGACATGATCAGAAGAA	0.527																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(592-594)Gat>Aat		connector enhancer of kinase suppressor of Ras 1							103.0	110.0	108.0					1																	26513716		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26513716G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1387G>A	1.37:g.26513716G>A	ENSP00000363371:p.Asp463Asn					CNKSR1_ENST00000374253.5_Missense_Mutation_p.D463N|CNKSR1_ENST00000361530.6_Missense_Mutation_p.D456N	p.D198N			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	14	1599	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	463			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.795507	0.90453	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.13196	2.61;2.61;2.61	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.054388	0.64402	D	0.000001	T	0.19446	0.0467	L	0.45285	1.41	0.47153	D	0.99933	P;P	0.47484	0.801;0.896	P;P	0.48598	0.5;0.583	T	0.00187	-1.1941	10	0.66056	D	0.02	-15.5234	13.7732	0.63038	0.0733:0.0:0.9267:0.0	.	463;456	Q969H4;Q53GM7	CNKR1_HUMAN;.	N	456;463;198	ENSP00000354609:D456N;ENSP00000363371:D463N;ENSP00000431817:D198N	ENSP00000354609:D456N	D	+	1	0	CNKSR1	26386303	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	6.818000	0.75257	2.608000	0.88229	0.655000	0.94253	GAT		0.527	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		9	26	0	0	0	1	0	9	26				
GREB1	9687	broad.mit.edu	37	2	11765324	11765324	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:11765324C>A	ENST00000381486.2	+	24	4492	c.4192C>A	c.(4192-4194)Ccc>Acc	p.P1398T	GREB1_ENST00000234142.5_Missense_Mutation_p.P1398T|GREB1_ENST00000396123.1_Missense_Mutation_p.P396T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1398						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCTTAGCGACCCCTGGCCAGA	0.448																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4192-4194)Ccc>Acc		growth regulation by estrogen in breast cancer 1							216.0	205.0	209.0					2																	11765324		1894	4125	6019	SO:0001583	missense	9687					integral to membrane		g.chr2:11765324C>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4192C>A	2.37:g.11765324C>A	ENSP00000370896:p.Pro1398Thr					GREB1_ENST00000234142.5_Missense_Mutation_p.P1398T|GREB1_ENST00000396123.1_Missense_Mutation_p.P396T	p.P1398T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	24	4492	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1398					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4192C>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	9.105	1.005175	0.19199	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.21734	3.31;3.31;1.99	4.47	1.22	0.21188	.	0.629462	0.17387	N	0.176062	T	0.09291	0.0229	N	0.14661	0.345	0.25087	N	0.990883	B	0.09022	0.002	B	0.15484	0.013	T	0.23726	-1.0180	10	0.29301	T	0.29	-22.7565	2.4561	0.04530	0.2546:0.275:0.366:0.1044	.	1398	Q4ZG55	GREB1_HUMAN	T	1398;1398;396	ENSP00000370896:P1398T;ENSP00000234142:P1398T;ENSP00000379429:P396T	ENSP00000234142:P1398T	P	+	1	0	GREB1	11682775	0.030000	0.19436	0.998000	0.56505	0.776000	0.43924	-0.589000	0.05767	0.414000	0.25790	-0.345000	0.07892	CCC		0.448	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		95	188	1	0	1.19196e-48	1	1.35053e-48	95	188				
CD68	968	broad.mit.edu	37	17	7484303	7484303	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:7484303C>G	ENST00000250092.6	+	5	1061	c.850C>G	c.(850-852)Ctt>Gtt	p.L284V	AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000582151.1_5'Flank|SNORA67_ENST00000384423.1_RNA|MPDU1_ENST00000423172.2_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000250124.6_5'Flank|CD68_ENST00000380498.6_Missense_Mutation_p.L257V|MPDU1_ENST00000396501.4_5'Flank	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	284					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GAGCATCATTCTTTCACCAGC	0.572																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(850-852)Ctt>Gtt		CD68 molecule							98.0	93.0	95.0					17																	7484303		2203	4300	6503	SO:0001583	missense	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484303C>G	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.850C>G	17.37:g.7484303C>G	ENSP00000250092:p.Leu284Val					CD68_ENST00000380498.6_Missense_Mutation_p.L257V	p.L284V	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			5	1061	+			284					B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	ENST00000250092.6	37	c.850C>G	CCDS11114.1	.	.	.	.	.	.	.	.	.	.	C	8.047	0.765105	0.15914	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T	0.30448	1.53	4.91	-1.1	0.09872	.	0.834768	0.10277	N	0.694028	T	0.23410	0.0566	L	0.31294	0.92	0.09310	N	1	B;B	0.23591	0.01;0.088	B;B	0.27500	0.019;0.08	T	0.32693	-0.9897	10	0.56958	D	0.05	-1.2468	11.1442	0.48422	0.1357:0.2779:0.5865:0.0	.	284;257	P34810;B4DVT4	CD68_HUMAN;.	V	284;227	ENSP00000250092:L284V	ENSP00000250092:L284V	L	+	1	0	CD68	7425027	0.016000	0.18221	0.003000	0.11579	0.761000	0.43186	0.265000	0.18515	-0.269000	0.09298	-0.188000	0.12872	CTT		0.572	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		13	84	0	0	0	1	0	13	84				
CASP8AP2	9994	broad.mit.edu	37	6	90572749	90572749	+	RNA	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:90572749A>G	ENST00000551025.1	+	0	2758									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTCAAACAGTAGAACTCACAA	0.368																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							128.0	124.0	125.0					6																	90572749		1853	4101	5954			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572749A>G	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572749A>G										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2758	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.368	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		19	65	0	0	0	1	0	19	65				
OR2T6	254879	broad.mit.edu	37	1	248551779	248551779	+	Nonsense_Mutation	SNP	C	C	A	rs538669909		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:248551779C>A	ENST00000355728.2	+	1	870	c.870C>A	c.(868-870)taC>taA	p.Y290*		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTCATCTACAGTCTGAGGA	0.443																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(868-870)taC>taA		olfactory receptor, family 2, subfamily T, member 6							79.0	78.0	78.0					1																	248551779		2203	4300	6503	SO:0001587	stop_gained	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551779C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.870C>A	1.37:g.248551779C>A	ENSP00000347965:p.Tyr290*						p.Y290*	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	870	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		290					A6NE36	Nonsense_Mutation	SNP	ENST00000355728.2	37	c.870C>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632525	0.67015	.	.	ENSG00000198104	ENST00000355728	.	.	.	4.2	-1.58	0.08479	.	0.000000	0.41001	D	0.000965	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2963	0.37817	0.0:0.5863:0.0:0.4137	.	.	.	.	X	290	.	ENSP00000347965:Y290X	Y	+	3	2	OR2T6	246618402	0.007000	0.16637	0.989000	0.46669	0.985000	0.73830	-1.028000	0.03589	-0.412000	0.07519	-0.152000	0.13540	TAC		0.443	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		16	51	1	0	5.01169e-05	1	5.20121e-05	16	51				
EPN1	29924	broad.mit.edu	37	19	56200300	56200300	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:56200300C>G	ENST00000270460.6	+	4	854	c.543C>G	c.(541-543)agC>agG	p.S181R	EPN1_ENST00000085079.7_Missense_Mutation_p.S181R|EPN1_ENST00000411543.2_Missense_Mutation_p.S292R|EPN1_ENST00000591743.1_3'UTR	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	181					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGCAGAGCAGCGGGGAGGAGG	0.711																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(874-876)agC>agG		epsin 1							10.0	13.0	12.0					19																	56200300		2105	4234	6339	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56200300C>G	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.543C>G	19.37:g.56200300C>G	ENSP00000270460:p.Ser181Arg					EPN1_ENST00000270460.6_Missense_Mutation_p.S181R|EPN1_ENST00000085079.7_Missense_Mutation_p.S181R|EPN1_ENST00000591743.1_3'UTR	p.S292R	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	5	1423	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	181			8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.876C>G	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787461	0.16258	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.16196	2.41;2.37;2.36	4.0	-1.94	0.07571	.	0.173668	0.49916	D	0.000133	T	0.30386	0.0763	M	0.68593	2.085	0.80722	D	1	D;D;P;D	0.71674	0.983;0.998;0.95;0.996	P;D;P;D	0.70487	0.86;0.969;0.556;0.918	T	0.12528	-1.0544	10	0.17369	T	0.5	-16.0304	11.8008	0.52126	0.0:0.6146:0.0:0.3854	.	142;292;181;181	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	R	181;181;142;292	ENSP00000270460:S181R;ENSP00000085079:S181R;ENSP00000406209:S292R	ENSP00000085079:S181R	S	+	3	2	EPN1	60892112	0.000000	0.05858	0.981000	0.43875	0.027000	0.11550	-3.739000	0.00379	-0.359000	0.08150	-1.598000	0.00824	AGC		0.711	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		6	6	0	0	0	1	0	6	6				
CPEB3	22849	broad.mit.edu	37	10	93952390	93952390	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:93952390G>A	ENST00000265997.4	-	3	1181	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	CPEB3_ENST00000412050.4_Missense_Mutation_p.R337W	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	337					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGCCTACTCCGGTCCTAAGAA	0.358																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1009-1011)Cgg>Tgg		cytoplasmic polyadenylation element binding protein 3							55.0	50.0	52.0					10																	93952390		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93952390G>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1009C>T	10.37:g.93952390G>A	ENSP00000265997:p.Arg337Trp					CPEB3_ENST00000265997.4_Missense_Mutation_p.R337W	p.R337W	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			3	1097	-		Colorectal(252;0.0869)	337					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1009C>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858210	0.91433	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.58210	0.44;0.35	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.982;0.992	T	0.67841	-0.5566	10	0.87932	D	0	-18.4168	20.6314	0.99525	0.0:0.0:1.0:0.0	.	337;337;337	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	W	337	ENSP00000398310:R337W;ENSP00000265997:R337W	ENSP00000265997:R337W	R	-	1	2	CPEB3	93942370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.347000	0.97059	2.885000	0.99019	0.579000	0.79373	CGG		0.358	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		5	28	0	0	0	1	0	5	28				
ASPH	444	broad.mit.edu	37	8	62577838	62577838	+	Intron	SNP	T	T	C	rs145678786	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:62577838T>C	ENST00000379454.4	-	4	510				ASPH_ENST00000541428.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.K202R|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000389204.4_Missense_Mutation_p.K217R|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517903.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGTATTTCCCTTTGTTAAGTG	0.378													T|||	5	0.000998403	0.0	0.0072	5008	,	,		20343	0.0		0.0	False		,,,				2504	0.0					ENST00000389204.4																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(649-651)aAg>aGg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	T	,,,,,,,ARG/LYS,,ARG/LYS,	1,4405	2.1+/-5.4	0,1,2202	289.0	264.0	272.0		,,,,,,,650,,605,	3.7	0.1	8	dbSNP_134	272	9,8591	7.1+/-27.0	0,9,4291	yes	intron,intron,intron,intron,intron,intron,intron,missense,intron,missense,intron	ASPH	NM_001164750.1,NM_001164751.1,NM_001164752.1,NM_001164753.1,NM_001164754.1,NM_001164755.1,NM_004318.3,NM_020164.4,NM_032466.3,NM_032467.3,NM_032468.4	,,,,,,,26,,26,	0,10,6493	CC,CT,TT		0.1047,0.0227,0.0769	,,,,,,,,,,	,,,,,,,217/226,,202/211,	62577838	10,12996	2203	4300	6503	SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62577838T>C	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.323-11619A>G	8.37:g.62577838T>C						ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.K202R|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000541428.1_Intron	p.K217R	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN			6	735	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.650A>G	CCDS34898.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	17.76	3.469522	0.63625	2.27E-4	0.001047	ENSG00000198363	ENST00000389204;ENST00000522603	.	.	.	4.82	3.66	0.41972	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.80722	D	1	B;B	0.23540	0.087;0.087	B;B	0.27887	0.084;0.084	T	0.32508	-0.9904	7	0.41790	T	0.15	.	8.4807	0.33040	0.0:0.0916:0.0:0.9084	.	202;217	Q12797-4;Q12797-3	.;.	R	217;202	.	ENSP00000373856:K217R	K	-	2	0	ASPH	62740392	0.618000	0.27051	0.050000	0.19076	0.036000	0.12997	1.965000	0.40471	0.947000	0.37659	0.533000	0.62120	AAG		0.378	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		44	103	0	0	0	1	0	44	103				
ZGLP1	100125288	broad.mit.edu	37	19	10418965	10418965	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:10418965C>T	ENST00000403903.3	-	1	1591	c.393G>A	c.(391-393)ctG>ctA	p.L131L	CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000492239.1_5'Flank|ZGLP1_ENST00000403352.1_Silent_p.L47L|FDX1L_ENST00000541276.1_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	131					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGCAGGGGTTCAGCTGTTTCC	0.637																																						ENST00000403903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						c.(391-393)ctG>ctA		zinc finger, GATA-like protein 1							20.0	23.0	22.0					19																	10418965		1850	4098	5948	SO:0001819	synonymous_variant	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10418965C>T	AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.393G>A	19.37:g.10418965C>T						CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403352.1_Silent_p.L47L|FDX1L_ENST00000541276.1_3'UTR	p.L131L	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN			1	1591	-			131						Silent	SNP	ENST00000403903.3	37	c.393G>A	CCDS45959.1																																																																																				0.637	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		9	21	0	0	0	1	0	9	21				
ATP13A3	79572	broad.mit.edu	37	3	194151922	194151922	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:194151922C>G	ENST00000439040.1	-	23	3246	c.2455G>C	c.(2455-2457)Gag>Cag	p.E819Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.E819Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	819						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAAGATCCTCTAAGCTATCA	0.338																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2455-2457)Gag>Cag		ATPase type 13A3							118.0	108.0	111.0					3																	194151922		1885	4105	5990	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194151922C>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2455G>C	3.37:g.194151922C>G	ENSP00000416508:p.Glu819Gln					ATP13A3_ENST00000256031.4_Missense_Mutation_p.E819Q	p.E819Q			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	23	3246	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	819					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2455G>C	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747423	0.49257	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.57436	0.4;0.4	5.66	4.78	0.61160	HAD-like domain (1);	0.207319	0.48767	D	0.000169	T	0.39118	0.1066	N	0.22421	0.69	0.52501	D	0.999955	B	0.21821	0.061	B	0.25759	0.063	T	0.15492	-1.0435	10	0.20046	T	0.44	4.0759	13.9595	0.64170	0.0:0.927:0.0:0.073	.	819	Q9H7F0	AT133_HUMAN	Q	819;819;557	ENSP00000416508:E819Q;ENSP00000256031:E819Q	ENSP00000256031:E819Q	E	-	1	0	ATP13A3	195633211	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.618000	0.61211	1.392000	0.46585	0.655000	0.94253	GAG		0.338	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		9	114	0	0	0	1	0	9	114				
VAV1	7409	broad.mit.edu	37	19	6843175	6843175	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:6843175C>G	ENST00000602142.1	+	22	2092	c.2010C>G	c.(2008-2010)ctC>ctG	p.L670L	VAV1_ENST00000596764.1_Silent_p.L638L|VAV1_ENST00000539284.1_Silent_p.L573L|VAV1_ENST00000304076.2_Silent_p.L648L|VAV1_ENST00000599806.1_Silent_p.L615L	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	670					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGTTCATCTCTGGTGAGTAG	0.488																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1942-1944)ctC>ctG		vav 1 guanine nucleotide exchange factor							207.0	201.0	203.0					19																	6843175		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6843175C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2010C>G	19.37:g.6843175C>G						VAV1_ENST00000539284.1_Silent_p.L573L|VAV1_ENST00000596764.1_Silent_p.L638L|VAV1_ENST00000599806.1_Silent_p.L615L|VAV1_ENST00000602142.1_Silent_p.L670L	p.L648L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			21	2038	+			670			SH3 1.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1944C>G	CCDS12174.1																																																																																				0.488	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			33	91	0	0	0	1	0	33	91				
SNCAIP	9627	broad.mit.edu	37	5	121767715	121767715	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:121767715G>C	ENST00000261368.8	+	6	1496	c.1234G>C	c.(1234-1236)Gca>Cca	p.A412P	SNCAIP_ENST00000379533.2_Missense_Mutation_p.A459P|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A459P|SNCAIP_ENST00000261367.7_Missense_Mutation_p.A459P|SNCAIP_ENST00000379536.2_Missense_Mutation_p.A352P|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.A46P	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	412					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAAGCCATTGCAGAACTGAG	0.418																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1375-1377)Gca>Cca		synuclein, alpha interacting protein							129.0	115.0	120.0					5																	121767715		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121767715G>C	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1234G>C	5.37:g.121767715G>C	ENSP00000261368:p.Ala412Pro					SNCAIP_ENST00000261368.8_Missense_Mutation_p.A412P|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A459P|SNCAIP_ENST00000379536.2_Missense_Mutation_p.A352P|SNCAIP_ENST00000379538.3_Missense_Mutation_p.A46P|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A459P|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000504884.2_3'UTR	p.A459P			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	8	2803	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	412					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1375G>C	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537313	0.85812	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T	0.53640	0.61;0.64;0.64;0.61;1.39;0.64;0.68	4.84	4.84	0.62591	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.997;1.0;0.963;1.0;1.0;1.0	D;D;D;D;P;D;D;D	0.91635	0.99;0.996;0.921;0.999;0.76;0.999;0.996;0.999	T	0.63097	-0.6713	10	0.41790	T	0.15	-17.2414	18.3293	0.90263	0.0:0.0:1.0:0.0	.	352;40;459;352;46;46;459;412	D6R9G8;Q9NVG1;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	P	352;412;459;352;46;459;52;459	ENSP00000422106:A352P;ENSP00000261368:A412P;ENSP00000368848:A459P;ENSP00000368851:A352P;ENSP00000368854:A46P;ENSP00000261367:A459P;ENSP00000423199:A459P	ENSP00000261367:A459P	A	+	1	0	SNCAIP	121795614	1.000000	0.71417	0.979000	0.43373	0.961000	0.63080	9.139000	0.94554	2.404000	0.81709	0.650000	0.86243	GCA		0.418	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			3	34	0	0	0	1	0	3	34				
PBRM1	55193	broad.mit.edu	37	3	52702585	52702585	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:52702585C>G	ENST00000296302.7	-	3	314	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PBRM1_ENST00000409767.1_Missense_Mutation_p.E105Q|PBRM1_ENST00000356770.4_Missense_Mutation_p.E105Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.E105Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E105Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E105Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E105Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E105Q			Q86U86	PB1_HUMAN	polybromo 1	105	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)		TCATCATACTCTTCCATTTTT	0.299			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(313-315)Gag>Cag		polybromo 1							84.0	78.0	80.0					3																	52702585		2203	4297	6500	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.chr3:52702585C>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.313G>C	3.37:g.52702585C>G	ENSP00000296302:p.Glu105Gln					PBRM1_ENST00000296302.7_Missense_Mutation_p.E105Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E105Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.E105Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E105Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E105Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E105Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E105Q	p.E105Q			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)	3	315	-			105			Bromo 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.313G>C		.	.	.	.	.	.	.	.	.	.	C	23.4	4.405987	0.83230	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505	T;T;T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.51	5.51	0.81932	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.48986	1.54	0.80722	D	1	D;P;D;D;P;P;D;P;D	0.69078	0.962;0.783;0.97;0.962;0.907;0.918;0.997;0.831;0.994	P;B;D;P;B;P;P;B;D	0.68943	0.582;0.397;0.923;0.582;0.349;0.547;0.907;0.233;0.961	T	0.49854	-0.8895	10	0.72032	D	0.01	-17.1259	19.7661	0.96342	0.0:1.0:0.0:0.0	.	105;105;105;105;105;105;105;105;105	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	Q	105;105;105;105;105;105;105;105;105;49;105;105;105	ENSP00000349213:E105Q;ENSP00000378307:E105Q;ENSP00000296302:E105Q;ENSP00000338302:E105Q;ENSP00000386593:E105Q;ENSP00000386529:E105Q;ENSP00000386643:E105Q;ENSP00000386601:E105Q;ENSP00000387775:E105Q;ENSP00000397662:E49Q;ENSP00000409939:E105Q;ENSP00000389390:E105Q;ENSP00000412401:E105Q	ENSP00000296302:E105Q	E	-	1	0	PBRM1	52677625	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.093000	0.76937	2.745000	0.94114	0.655000	0.94253	GAG		0.299	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		8	35	0	0	0	1	0	8	35				
FAM83D	81610	broad.mit.edu	37	20	37580315	37580315	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:37580315C>A	ENST00000217429.4	+	4	1041	c.1000C>A	c.(1000-1002)Cac>Aac	p.H334N		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	304					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACTCCTGTCTCACTTCCAGAG	0.532																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1000-1002)Cac>Aac		family with sequence similarity 83, member D							119.0	121.0	121.0					20																	37580315		2011	4190	6201	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580315C>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1000C>A	20.37:g.37580315C>A	ENSP00000217429:p.His334Asn						p.H334N	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1041	+		Myeloproliferative disorder(115;0.00878)	304					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1000C>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	4.823	0.153063	0.09185	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10573	2.86	5.81	0.419	0.16438	.	1.240410	0.05172	N	0.499736	T	0.04137	0.0115	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41645	-0.9497	10	0.13853	T	0.58	.	5.9919	0.19472	0.5299:0.2509:0.2192:0.0	.	304	Q9H4H8	FA83D_HUMAN	N	334;288	ENSP00000217429:H334N	ENSP00000217429:H334N	H	+	1	0	FAM83D	37013729	0.620000	0.27068	0.809000	0.32408	0.982000	0.71751	0.619000	0.24388	0.117000	0.18138	-0.262000	0.10625	CAC		0.532	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			4	111	1	0	0.00909568	1	0.00920751	4	111				
ZNF385D	79750	broad.mit.edu	37	3	21792472	21792472	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:21792472G>A	ENST00000281523.2	-	0	455				ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGGCTGGCACGTAGAGCAGAG	0.557																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46								zinc finger protein 385D							52.0	46.0	48.0					3																	21792472		692	1591	2283			79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21792472G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.-64C>T	3.37:g.21792472G>A						ZNF385D_ENST00000494118.1_Intron		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			0	455	-									Translation_Start_Site	SNP	ENST00000281523.2	37		CCDS2636.1																																																																																				0.557	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		5	25	0	0	0	1	0	5	25				
FUT8	2530	broad.mit.edu	37	14	66188671	66188671	+	Silent	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:66188671A>G	ENST00000360689.5	+	8	2741	c.1014A>G	c.(1012-1014)ccA>ccG	p.P338P	FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Silent_p.P338P|FUT8_ENST00000358307.2_Silent_p.P209P|FUT8_ENST00000557164.1_Silent_p.P175P|FUT8_ENST00000394585.1_Silent_p.P338P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	338	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				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)		TGATCCGCCCACAGCCTTGGC	0.468																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1012-1014)ccA>ccG		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							110.0	104.0	106.0					14																	66188671		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:66188671A>G	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.1014A>G	14.37:g.66188671A>G						FUT8_ENST00000557164.1_Silent_p.P175P|FUT8_ENST00000394586.2_Silent_p.P338P|FUT8_ENST00000358307.2_Silent_p.P209P|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394585.1_Silent_p.P338P	p.P338P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	8	2741	+			338					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1014A>G	CCDS9775.1																																																																																				0.468	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		17	75	0	0	0	1	0	17	75				
ZNF501	115560	broad.mit.edu	37	3	44776052	44776052	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:44776052G>A	ENST00000396048.2	+	3	576	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	47					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)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCACAGAGGAGAGAAGCCCTA	0.413																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(139-141)Gag>Aag		zinc finger protein 501							90.0	101.0	97.0					3																	44776052		2180	4291	6471	SO:0001583	missense	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776052G>A	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.139G>A	3.37:g.44776052G>A	ENSP00000379363:p.Glu47Lys						p.E47K	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	576	+			47					B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	c.139G>A	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801201	0.70567	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.24350	1.86	2.52	0.706	0.18133	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25082	0.0609	M	0.69523	2.12	0.28473	N	0.915317	P;B	0.45126	0.851;0.305	B;B	0.38458	0.274;0.178	T	0.16988	-1.0384	9	0.72032	D	0.01	.	7.4106	0.27016	0.2389:0.0:0.7611:0.0	.	47;47	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	K	47	ENSP00000379363:E47K	ENSP00000330388:E47K	E	+	1	0	ZNF501	44751056	1.000000	0.71417	0.952000	0.39060	0.998000	0.95712	4.750000	0.62162	0.165000	0.19558	0.563000	0.77884	GAG		0.413	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		18	32	0	0	0	1	0	18	32				
KIAA0232	9778	broad.mit.edu	37	4	6864840	6864840	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:6864840T>G	ENST00000307659.5	+	7	3186	c.2731T>G	c.(2731-2733)Tat>Gat	p.Y911D	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Y911D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	911							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGGTGGTGATTATACAACACC	0.448																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2731-2733)Tat>Gat		KIAA0232							91.0	96.0	95.0					4																	6864840		2034	4192	6226	SO:0001583	missense	9778						ATP binding	g.chr4:6864840T>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2731T>G	4.37:g.6864840T>G	ENSP00000303928:p.Tyr911Asp					KIAA0232_ENST00000425103.1_Missense_Mutation_p.Y911D	p.Y911D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	3186	+			911					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2731T>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991946	0.54041	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79310	-0.1856	9	0.87932	D	0	-17.387	14.8047	0.69945	0.0:0.0:0.0:1.0	.	911	Q92628	K0232_HUMAN	D	911	.	ENSP00000303928:Y911D	Y	+	1	0	KIAA0232	6915741	1.000000	0.71417	0.104000	0.21259	0.908000	0.53690	7.099000	0.76981	2.145000	0.66743	0.533000	0.62120	TAT		0.448	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		14	41	0	0	0	1	0	14	41				
PNPLA1	285848	broad.mit.edu	37	6	36263163	36263163	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:36263163G>A	ENST00000394571.2	+	5	737	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R160Q|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R151Q	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	246					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TACTACTACCGAGGGTACGAG	0.582																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(736-738)cGa>cAa		patatin-like phospholipase domain containing 1							101.0	88.0	93.0					6																	36263163		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36263163G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.737G>A	6.37:g.36263163G>A	ENSP00000378072:p.Arg246Gln					PNPLA1_ENST00000312917.5_Missense_Mutation_p.R160Q|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R151Q	p.R246Q	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			5	737	+			246					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.737G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657527	0.29425	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.81	4.95	0.65309	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.44688	D	0.000431	T	0.18800	0.0451	N	0.10782	0.045	0.28979	N	0.888756	P;P	0.46277	0.875;0.839	B;B	0.35240	0.153;0.198	T	0.04333	-1.0959	10	0.24483	T	0.36	-8.9607	10.9218	0.47169	0.0861:0.0:0.9139:0.0	.	246;160	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	Q	151;160;247;246	ENSP00000373367:R151Q;ENSP00000321116:R160Q;ENSP00000391868:R247Q;ENSP00000378072:R246Q	ENSP00000321116:R160Q	R	+	2	0	PNPLA1	36371141	0.998000	0.40836	1.000000	0.80357	0.512000	0.34134	1.520000	0.35899	1.478000	0.48253	0.462000	0.41574	CGA		0.582	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		9	82	0	0	0	1	0	9	82				
FAM83C	128876	broad.mit.edu	37	20	33875642	33875642	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:33875642C>T	ENST00000374408.3	-	4	1036	c.940G>A	c.(940-942)Gag>Aag	p.E314K	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	314										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGCGGGTCCTCACCGCCACAG	0.667																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(940-942)Gag>Aag		family with sequence similarity 83, member C							42.0	41.0	41.0					20																	33875642		2181	4272	6453	SO:0001583	missense	128876							g.chr20:33875642C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.940G>A	20.37:g.33875642C>T	ENSP00000363529:p.Glu314Lys						p.E314K	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1036	-			314					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.940G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374997	0.42105	.	.	ENSG00000125998	ENST00000374408	T	0.08008	3.14	4.95	4.95	0.65309	.	0.634826	0.15401	N	0.264331	T	0.12732	0.0309	M	0.70595	2.14	0.45995	D	0.998801	P	0.40000	0.698	B	0.38378	0.272	T	0.16335	-1.0406	10	0.16420	T	0.52	-13.428	15.7068	0.77588	0.0:1.0:0.0:0.0	.	314	Q9BQN1	FA83C_HUMAN	K	314	ENSP00000363529:E314K	ENSP00000363529:E314K	E	-	1	0	FAM83C	33339056	1.000000	0.71417	0.247000	0.24249	0.009000	0.06853	6.329000	0.72920	2.462000	0.83206	0.561000	0.74099	GAG		0.667	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			5	10	0	0	0	1	0	5	10				
AOX1	316	broad.mit.edu	37	2	201515727	201515727	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:201515727G>C	ENST00000374700.2	+	26	3119	c.2878G>C	c.(2878-2880)Gat>Cat	p.D960H	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	960					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAGGAAATTGATCAAACACC	0.433																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2878-2880)Gat>Cat		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						116.0	105.0	108.0					2																	201515727		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515727G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2878G>C	2.37:g.201515727G>C	ENSP00000363832:p.Asp960His					AOX1_ENST00000485106.1_3'UTR	p.D960H	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			26	3119	+			960					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2878G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378493	0.42207	.	.	ENSG00000138356	ENST00000374700	T	0.40225	1.04	5.41	4.49	0.54785	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.327944	0.33438	N	0.004907	T	0.48857	0.1523	M	0.82630	2.6	0.09310	N	1	B	0.31931	0.347	B	0.37601	0.254	T	0.53229	-0.8468	10	0.87932	D	0	-39.0967	9.8738	0.41191	0.0724:0.1396:0.7879:0.0	.	960	Q06278	ADO_HUMAN	H	960	ENSP00000363832:D960H	ENSP00000363832:D960H	D	+	1	0	AOX1	201223972	0.003000	0.15002	0.996000	0.52242	0.995000	0.86356	0.995000	0.29706	2.826000	0.97356	0.655000	0.94253	GAT		0.433	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		11	68	0	0	0	1	0	11	68				
CACNA1C	775	broad.mit.edu	37	12	2613674	2613674	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:2613674G>A	ENST00000399617.1	+	8	1186	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V396I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	396					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCCTTTTTCGTTCTAAATCT	0.488																																						ENST00000399634.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1186-1188)Gtt>Att		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						290.0	243.0	257.0					12																	2613674		1568	3582	5150	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2613674G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1186G>A	12.37:g.2613674G>A	ENSP00000382526:p.Val396Ile					CACNA1C_ENST00000399641.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V396I|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000402845.3_Intron	p.V396I	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	8	1186	+			396					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000399617.1	37	c.1186G>A	CCDS53733.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000151067	ENST00000399641;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000322367	D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.69185	2.1	0.80722	D	1	D;D;P;D;D;D	0.89917	0.965;0.999;0.782;0.999;1.0;0.992	B;D;P;D;D;D	0.85130	0.411;0.987;0.485;0.993;0.997;0.952	D	0.96522	0.9386	10	0.37606	T	0.19	.	18.5817	0.91174	0.0:0.0:1.0:0.0	.	25;396;367;396;396;396	Q5V9X8;Q13936-23;Q13936-28;E9PDJ1;E9PDJ0;F5GY28	.;.;.;.;.;.	I	396;396;396;396;396;237	ENSP00000382549:V396I;ENSP00000382512:V396I;ENSP00000382542:V396I;ENSP00000382526:V396I;ENSP00000385896:V396I	ENSP00000323129:V237I	V	+	1	0	CACNA1C	2483935	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.619000	0.88677	0.561000	0.74099	GTT		0.488	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317031.1	NM_000719		14	72	0	0	0	1	0	14	72				
MAP1A	4130	broad.mit.edu	37	15	43819433	43819433	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:43819433G>A	ENST00000300231.5	+	4	6212	c.5762G>A	c.(5761-5763)aGg>aAg	p.R1921K	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1921K|MAP1A_ENST00000382031.1_Missense_Mutation_p.R2159K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1921					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAGAAGGTAGGGCTGAGGCT	0.602																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6475-6477)aGg>aAg		microtubule-associated protein 1A	Estramustine(DB01196)						74.0	91.0	86.0					15																	43819433		2137	4255	6392	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819433G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5762G>A	15.37:g.43819433G>A	ENSP00000300231:p.Arg1921Lys					MAP1A_ENST00000300231.5_Missense_Mutation_p.R1921K|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1921K	p.R2159K			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6507	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1921					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6476G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	3.435	-0.115288	0.06881	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01335	5.0;5.0;5.0	4.76	1.4	0.22301	.	0.797181	0.10281	N	0.693550	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.45011	-0.9290	10	0.05620	T	0.96	-4.4757	7.4857	0.27432	0.3553:0.0:0.6447:0.0	.	1921	P78559	MAP1A_HUMAN	K	2159;1921;1921	ENSP00000371462:R2159K;ENSP00000382380:R1921K;ENSP00000300231:R1921K	ENSP00000300231:R1921K	R	+	2	0	MAP1A	41606725	0.943000	0.32029	0.266000	0.24541	0.316000	0.28119	1.658000	0.37376	0.517000	0.28361	0.563000	0.77884	AGG		0.602	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		14	53	0	0	0	1	0	14	53				
PRRG2	5639	broad.mit.edu	37	19	50093194	50093194	+	Missense_Mutation	SNP	C	C	G	rs139807476	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:50093194C>G	ENST00000246794.5	+	6	644	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	PRR12_ENST00000418929.2_5'Flank|PRRG2_ENST00000596700.1_3'UTR	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	159						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		TTTGAACCCTCTGGGcccacc	0.642																																						ENST00000246794.5																			0				lung(1)|skin(1)|soft_tissue(1)	3						c.(475-477)Ctg>Gtg		proline rich Gla (G-carboxyglutamic acid) 2		C	VAL/LEU	0,4406		0,0,2203	47.0	46.0	46.0		475	0.1	0.0	19	dbSNP_134	46	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PRRG2	NM_000951.2	32	0,5,6498	GG,GC,CC		0.0581,0.0,0.0384	possibly-damaging	159/203	50093194	5,13001	2203	4300	6503	SO:0001583	missense	5639					extracellular region|integral to plasma membrane	calcium ion binding	g.chr19:50093194C>G		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.475C>G	19.37:g.50093194C>G	ENSP00000246794:p.Leu159Val					PRRG2_ENST00000596700.1_3'UTR	p.L159V	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)	6	644	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	159					Q6IBF8	Missense_Mutation	SNP	ENST00000246794.5	37	c.475C>G	CCDS12773.1	.	.	.	.	.	.	.	.	.	.	C	5.924	0.354457	0.11239	0.0	5.81E-4	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.97089	-4.24	2.45	0.0719	0.14384	.	2.035590	0.03545	N	0.224523	D	0.93923	0.8055	L	0.53249	1.67	0.09310	N	1	P;B	0.39847	0.691;0.411	B;B	0.35353	0.201;0.069	D	0.86184	0.1608	10	0.24483	T	0.36	.	3.7151	0.08435	0.0:0.5826:0.2572:0.1603	.	136;159	F5GZ13;O14669	.;TMG2_HUMAN	V	159;136	ENSP00000246794:L159V	ENSP00000246794:L159V	L	+	1	2	PRRG2	54785006	0.000000	0.05858	0.000000	0.03702	0.764000	0.43329	0.041000	0.13927	-0.019000	0.14055	-0.379000	0.06801	CTG		0.642	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		9	34	0	0	0	1	0	9	34				
C20orf27	54976	broad.mit.edu	37	20	3736145	3736145	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:3736145T>C	ENST00000379772.3	-	4	1082	c.272A>G	c.(271-273)aAg>aGg	p.K91R	C20orf27_ENST00000217195.8_Missense_Mutation_p.K116R	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	91										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCTGAGGAGCTTGAGGTGCAG	0.612																																						ENST00000379772.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(271-273)aAg>aGg		chromosome 20 open reading frame 27							79.0	63.0	69.0					20																	3736145		2203	4300	6503	SO:0001583	missense	54976							g.chr20:3736145T>C	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.272A>G	20.37:g.3736145T>C	ENSP00000369097:p.Lys91Arg					C20orf27_ENST00000217195.8_Missense_Mutation_p.K116R	p.K91R	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN			4	1082	-			91					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.272A>G	CCDS58763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.91|10.91	1.483314|1.483314	0.26598|0.26598	.|.	.|.	ENSG00000101220|ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765|ENST00000399683	.|.	.|.	.|.	4.15|4.15	0.678|0.678	0.17969|0.17969	.|.	0.173824|.	0.37437|.	N|.	0.002091|.	T|T	0.13286|0.13286	0.0322|0.0322	N|N	0.02736|0.02736	-0.51|-0.51	0.30961|0.30961	N|N	0.723704|0.723704	B;B;B|.	0.15930|.	0.001;0.008;0.015|.	B;B;B|.	0.16722|.	0.003;0.008;0.016|.	T|T	0.33420|0.33420	-0.9869|-0.9869	9|5	0.15066|.	T|.	0.55|.	-6.0453|-6.0453	7.1456|7.1456	0.25581|0.25581	0.0:0.2927:0.0:0.7073|0.0:0.2927:0.0:0.7073	.|.	91;116;91|.	Q9GZN8;Q9GZN8-2;E9PAL2|.	CT027_HUMAN;.;.|.	R|G	91;116;91;91|85	.|.	ENSP00000217195:K116R|.	K|S	-|-	2|1	0|0	C20orf27|C20orf27	3684145|3684145	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.839000|0.839000	0.47603|0.47603	0.591000|0.591000	0.23969|0.23969	0.096000|0.096000	0.17463|0.17463	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.612	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		6	23	0	0	0	1	0	6	23				
MUC4	4585	broad.mit.edu	37	3	195516530	195516530	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:195516530G>C	ENST00000463781.3	-	2	2380	c.1921C>G	c.(1921-1923)Caa>Gaa	p.Q641E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q641E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	646					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCGGGGCTTGAGTGTGACCC	0.512																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1921-1923)Caa>Gaa		mucin 4, cell surface associated							295.0	300.0	299.0					3																	195516530		2075	4213	6288	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516530G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1921C>G	3.37:g.195516530G>C	ENSP00000417498:p.Gln641Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q641E	p.Q641E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2380	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	646					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1921C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.511	-0.099748	0.07010	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.32023	1.48;1.47	3.16	0.078	0.14410	.	1.931370	0.02876	N	0.132185	T	0.12092	0.0294	N	0.03608	-0.345	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.23833	-1.0177	10	0.02654	T	1	0.7228	6.0405	0.19732	0.0:0.4003:0.3951:0.2046	.	641	E7ESK3	.	E	641;641;615	ENSP00000417498:Q641E;ENSP00000420243:Q641E	ENSP00000376209:Q615E	Q	-	1	0	MUC4	197000925	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.640000	0.05440	0.005000	0.14708	-0.209000	0.12711	CAA		0.512	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		24	222	0	0	0	1	0	24	222				
EIF2B4	8890	broad.mit.edu	37	2	27587687	27587687	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:27587687C>A	ENST00000347454.4	-	12	1441	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Missense_Mutation_p.A423S|EIF2B4_ENST00000493344.2_Missense_Mutation_p.A445S|EIF2B4_ENST00000451130.2_Missense_Mutation_p.A444S	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	424					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCAGGGCTAACTGTGCT	0.512																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(1333-1335)Gcc>Tcc		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							84.0	74.0	77.0					2																	27587687		2203	4300	6503	SO:0001583	missense	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27587687C>A	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1270G>T	2.37:g.27587687C>A	ENSP00000233552:p.Ala424Ser					EIF2B4_ENST00000445933.2_Missense_Mutation_p.A423S|EIF2B4_ENST00000451130.2_Missense_Mutation_p.A444S|EIF2B4_ENST00000347454.4_Missense_Mutation_p.A424S|AC074117.10_ENST00000412749.1_RNA	p.A445S			Q9UI10	EI2BD_HUMAN			11	1645	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		424					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.1333G>T	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405718	0.83230	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.56287	0.972;0.972;0.975;0.969	P;P;D;P	0.65323	0.891;0.891;0.934;0.891	D	0.99301	1.0901	10	0.62326	D	0.03	-10.9066	16.8223	0.85835	0.0:1.0:0.0:0.0	.	421;423;424;444	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	S	424;421;423;444;445	ENSP00000233552:A424S;ENSP00000394397:A423S;ENSP00000394869:A444S;ENSP00000429323:A445S	ENSP00000233552:A424S	A	-	1	0	EIF2B4	27441191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.887000	0.69751	2.545000	0.85829	0.655000	0.94253	GCC		0.512	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			10	50	1	0	3.07112e-06	1	3.26265e-06	10	50				
ZNF737	100129842	broad.mit.edu	37	19	20727911	20727911	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:20727911C>G	ENST00000427401.4	-	4	1192	c.1098G>C	c.(1096-1098)gaG>gaC	p.E366D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	366					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTAGGGTTTCTCTCCACTAT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1096-1098)gaG>gaC		zinc finger protein 737							23.0	23.0	23.0					19																	20727911		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727911C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1098G>C	19.37:g.20727911C>G	ENSP00000395733:p.Glu366Asp						p.E366D	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1192	-			366					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1098G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	8.004	0.755936	0.15846	.	.	ENSG00000237440	ENST00000427401	T	0.26810	1.71	0.801	0.801	0.18679	.	.	.	.	.	T	0.16514	0.0397	N	0.21240	0.645	0.27863	N	0.940338	B	0.23854	0.092	B	0.25884	0.064	T	0.23940	-1.0174	9	0.66056	D	0.02	.	6.955	0.24565	0.0:1.0:0.0:0.0	.	366	C9JHM3	.	D	366	ENSP00000395733:E366D	ENSP00000395733:E366D	E	-	3	2	ZNF737	20519751	0.953000	0.32496	0.548000	0.28192	0.549000	0.35272	0.341000	0.19909	0.170000	0.19704	0.173000	0.16961	GAG		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		8	54	0	0	0	1	0	8	54				
TMPRSS7	344805	broad.mit.edu	37	3	111766608	111766608	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:111766608C>G	ENST00000452346.2	+	7	756	c.753C>G	c.(751-753)ttC>ttG	p.F251L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F125L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	251	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCAGTACTTCTATGCAGAGC	0.433																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(751-753)ttC>ttG		transmembrane protease, serine 7							72.0	62.0	65.0					3																	111766608		692	1591	2283	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111766608C>G	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.753C>G	3.37:g.111766608C>G	ENSP00000398236:p.Phe251Leu					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F125L	p.F251L			Q7RTY8	TMPS7_HUMAN			7	756	+			251			CUB 1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.753C>G		.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168802	0.01660	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127;ENST00000460599	T;T;T	0.17054	2.3;2.3;2.3	5.32	-4.67	0.03319	.	.	.	.	.	T	0.02533	0.0077	N	0.00347	-1.61	0.23776	N	0.996878	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	9	0.02654	T	1	.	4.5843	0.12275	0.1937:0.1565:0.5044:0.1454	.	125	Q7RTY8-2	.	L	251;239;225;125;114	ENSP00000398236:F251L;ENSP00000411645:F125L;ENSP00000447563:F114L	ENSP00000411645:F125L	F	+	3	2	TMPRSS7	113249298	0.434000	0.25570	0.545000	0.28153	0.186000	0.23388	-0.841000	0.04359	-0.502000	0.06596	-0.259000	0.10710	TTC		0.433	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		8	36	0	0	0	1	0	8	36				
CDC42BPB	9578	broad.mit.edu	37	14	103447296	103447296	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:103447296C>T	ENST00000361246.2	-	8	1242	c.954G>A	c.(952-954)caG>caA	p.Q318Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGATCAGTCTCTGGATGAGGT	0.488																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(952-954)caG>caA		CDC42 binding protein kinase beta (DMPK-like)							84.0	81.0	82.0					14																	103447296		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103447296C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.954G>A	14.37:g.103447296C>T							p.Q318Q	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	8	1242	-		Melanoma(154;0.155)	318			Protein kinase.			Silent	SNP	ENST00000361246.2	37	c.954G>A	CCDS9978.1																																																																																				0.488	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		21	63	0	0	0	1	0	21	63				
PCDHAC2	56134	broad.mit.edu	37	5	140347739	140347739	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140347739A>G	ENST00000289269.5	+	1	1920	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	463	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGACATCAATGACAATCCA	0.517																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1387-1389)aAt>aGt									149.0	150.0	150.0					5																	140347739		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347739A>G	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1388A>G	5.37:g.140347739A>G	ENSP00000289269:p.Asn463Ser					PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.N463S	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1920	+			463			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1388A>G	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630939	0.67015	.	.	ENSG00000243232	ENST00000289269	T	0.70749	-0.51	6.02	6.02	0.97574	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.44902	D	0.000406	D	0.92593	0.7647	H	0.99940	5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.96210	0.9152	10	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	463;463	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	S	463	ENSP00000289269:N463S	ENSP00000289269:N463S	N	+	2	0	PCDHAC2	140327923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	AAT		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		25	144	0	0	0	1	0	25	144				
AHNAK	79026	broad.mit.edu	37	11	62298456	62298456	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:62298456C>T	ENST00000378024.4	-	5	3707	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1145					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACTTCTGGGCCCTCG	0.552																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3433-3435)Gaa>Aaa		AHNAK nucleoprotein							145.0	144.0	144.0					11																	62298456		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298456C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3433G>A	11.37:g.62298456C>T	ENSP00000367263:p.Glu1145Lys					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E1145K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3707	-		Melanoma(852;0.155)	1145					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3433G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	8.234	0.805295	0.16467	.	.	ENSG00000124942	ENST00000378024	T	0.03212	4.01	4.88	4.88	0.63580	.	0.823466	0.10172	N	0.706948	T	0.07188	0.0182	L	0.52011	1.625	0.34259	D	0.679645	P	0.39601	0.68	B	0.41412	0.356	T	0.40942	-0.9536	10	0.23302	T	0.38	-3.5732	15.8679	0.79080	0.0:1.0:0.0:0.0	.	1145	Q09666	AHNK_HUMAN	K	1145	ENSP00000367263:E1145K	ENSP00000367263:E1145K	E	-	1	0	AHNAK	62055032	0.999000	0.42202	0.258000	0.24420	0.044000	0.14063	2.061000	0.41403	2.268000	0.75426	0.645000	0.84053	GAA		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	176	0	0	0	1	0	31	176				
RYR1	6261	broad.mit.edu	37	19	39055709	39055709	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:39055709G>C	ENST00000359596.3	+	91	12735	c.12735G>C	c.(12733-12735)caG>caC	p.Q4245H	RYR1_ENST00000355481.4_Missense_Mutation_p.Q4240H|RYR1_ENST00000360985.3_Missense_Mutation_p.Q4240H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4245					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGAGATGCAGATCGCCGCGC	0.687																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12718-12720)caG>caC		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						20.0	16.0	17.0					19																	39055709		2184	4269	6453	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39055709G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12735G>C	19.37:g.39055709G>C	ENSP00000352608:p.Gln4245His					RYR1_ENST00000360985.3_Missense_Mutation_p.Q4240H|RYR1_ENST00000359596.3_Missense_Mutation_p.Q4245H	p.Q4240H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		90	12851	+	all_cancers(60;7.91e-06)		4245					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12720G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599948	0.28534	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97752	-4.52;-4.52;-4.52	3.07	3.07	0.35406	.	0.164203	0.39615	U	0.001317	D	0.97576	0.9206	M	0.86502	2.82	0.43673	D	0.996104	P;P;P	0.47677	0.899;0.899;0.838	P;P;B	0.48840	0.49;0.592;0.387	D	0.97429	1.0014	10	0.87932	D	0	.	9.3875	0.38352	0.1112:0.0:0.8888:0.0	.	4240;4240;4245	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	4245;4240;4240	ENSP00000352608:Q4245H;ENSP00000347667:Q4240H;ENSP00000354254:Q4240H	ENSP00000347667:Q4240H	Q	+	3	2	RYR1	43747549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.233000	0.43027	1.744000	0.51775	0.505000	0.49811	CAG		0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			2	2	0	0	0	1	0	2	2				
MLLT10	8028	broad.mit.edu	37	10	22015240	22015240	+	Missense_Mutation	SNP	C	C	T	rs202106072		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:22015240C>T	ENST00000307729.7	+	15	2124	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	MLLT10_ENST00000446906.2_Missense_Mutation_p.S649L|MLLT10_ENST00000377072.3_Missense_Mutation_p.S665L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S649L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	649	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AGATCAAATTCATCAATGGCA	0.328			T	"""MLL, PICALM, CDK6"""	AL								C|||	1	0.000199681	0.0	0.0	5008	,	,		16288	0.0		0.001	False		,,,				2504	0.0					ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1993-1995)tCa>tTa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10		C	LEU/SER,LEU/SER	0,4406		0,0,2203	162.0	176.0	171.0		1946,1994	5.7	0.8	10		171	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	MLLT10	NM_001195626.1,NM_004641.3	145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	649/1069,665/1028	22015240	1,13003	2203	4299	6502	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22015240C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1946C>T	10.37:g.22015240C>T	ENSP00000307411:p.Ser649Leu					MLLT10_ENST00000307729.7_Missense_Mutation_p.S649L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S649L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S649L	p.S665L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			16	2342	+			665			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1994C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734736	0.48939	0.0	1.16E-4	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.66	5.66	0.87406	.	0.350198	0.30667	N	0.009121	T	0.20495	0.0493	L	0.56769	1.78	0.53005	D	0.999962	P;B;B;P	0.46142	0.873;0.321;0.023;0.546	P;B;B;B	0.47346	0.544;0.136;0.031;0.136	T	0.00124	-1.2024	10	0.66056	D	0.02	.	17.9301	0.88994	0.0:1.0:0.0:0.0	.	344;649;649;665	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	665;649;649;484;649;308;307	ENSP00000366272:S665L;ENSP00000401406:S649L;ENSP00000307411:S649L;ENSP00000366258:S649L	ENSP00000307411:S649L	S	+	2	0	MLLT10	22055246	1.000000	0.71417	0.760000	0.31359	0.984000	0.73092	6.009000	0.70745	2.655000	0.90218	0.650000	0.86243	TCA		0.328	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			20	198	0	0	0	1	0	20	198				
ASB4	51666	broad.mit.edu	37	7	95157581	95157581	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:95157581G>A	ENST00000325885.5	+	3	1015	c.944G>A	c.(943-945)gGg>gAg	p.G315E	ASB4_ENST00000428113.1_Missense_Mutation_p.G315E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	315					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGAACCATGGGGCTGCCCGA	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(943-945)gGg>gAg		ankyrin repeat and SOCS box containing 4							62.0	51.0	55.0					7																	95157581		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157581G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.944G>A	7.37:g.95157581G>A	ENSP00000321388:p.Gly315Glu		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Missense_Mutation_p.G315E	p.G315E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	1015	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		315					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.944G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876433	0.51801	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.66460	0.38;-0.21	4.94	4.94	0.65067	Ankyrin repeat-containing domain (2);	0.374240	0.29853	N	0.011022	D	0.84074	0.5392	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.946	D	0.86197	0.1616	10	0.66056	D	0.02	-23.3404	19.0642	0.93103	0.0:0.0:1.0:0.0	.	315;315	Q9Y574;Q14D68	ASB4_HUMAN;.	E	315	ENSP00000321388:G315E;ENSP00000397070:G315E	ENSP00000321388:G315E	G	+	2	0	ASB4	94995517	1.000000	0.71417	0.983000	0.44433	0.023000	0.10783	7.601000	0.82783	2.689000	0.91719	0.462000	0.41574	GGG		0.562	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		17	55	0	0	0	1	0	17	55				
IREB2	3658	broad.mit.edu	37	15	78781045	78781045	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:78781045G>A	ENST00000258886.8	+	16	2157	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	670					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TAGTCGAGAAGAAGTTCATCG	0.328																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2008-2010)Gaa>Aaa		iron-responsive element binding protein 2							78.0	80.0	79.0					15																	78781045		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78781045G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2008G>A	15.37:g.78781045G>A	ENSP00000258886:p.Glu670Lys						p.E670K	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	16	2157	+			670					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2008G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	37	6.098573	0.97281	.	.	ENSG00000136381	ENST00000258886	T	0.21361	2.01	5.4	5.4	0.78164	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.102760	0.64402	D	0.000003	T	0.45196	0.1330	H	0.96518	3.835	0.80722	D	1	D	0.55605	0.972	B	0.42827	0.399	T	0.68526	-0.5385	10	0.87932	D	0	.	19.1868	0.93647	0.0:0.0:1.0:0.0	.	670	P48200	IREB2_HUMAN	K	670	ENSP00000258886:E670K	ENSP00000258886:E670K	E	+	1	0	IREB2	76568100	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.572000	0.98179	2.551000	0.86045	0.650000	0.86243	GAA		0.328	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		16	49	0	0	0	1	0	16	49				
C14orf79	122616	broad.mit.edu	37	14	105453189	105453189	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:105453189G>C	ENST00000547315.1	+	1	1060	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'Flank|C14orf79_ENST00000549240.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	141										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			CCCACCTTCTGAGGTATTTCT	0.587																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(421-423)Gag>Cag		chromosome 14 open reading frame 79							60.0	66.0	64.0					14																	105453189		2086	4210	6296	SO:0001583	missense	122616							g.chr14:105453189G>C		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.421G>C	14.37:g.105453189G>C	ENSP00000450114:p.Glu141Gln					C14orf79_ENST00000549584.1_3'UTR	p.E141Q	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	1060	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	141					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.421G>C	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579797	0.28180	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.33	2.33	0.28932	.	0.000000	0.36893	U	0.002350	T	0.52092	0.1713	L	0.53249	1.67	0.58432	D	0.999998	P	0.50943	0.94	P	0.50405	0.64	T	0.51655	-0.8678	9	0.41790	T	0.15	-12.5652	8.8547	0.35221	0.0:0.2312:0.7688:0.0	.	141	Q96F83	CN079_HUMAN	Q	141	.	ENSP00000374614:E141Q	E	+	1	0	C14orf79	104524234	0.885000	0.30320	0.794000	0.32065	0.030000	0.12068	1.098000	0.31000	1.567000	0.49668	0.491000	0.48974	GAG		0.587	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		11	66	0	0	0	1	0	11	66				
UHRF1	29128	broad.mit.edu	37	19	4930834	4930834	+	RNA	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:4930834C>G	ENST00000592666.1	+	0	1091				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							58.0	66.0	63.0					19																	4930834		2128	4212	6340			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4930834C>G	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4930834C>G										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1091	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	C	12.94	2.088276	0.36855	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.15	4.15	0.48705	Domain of unknown function DUF3590 (1);	0.441622	0.24193	N	0.040694	T	0.61375	0.2342	L	0.54323	1.7	0.30103	N	0.8072429999999999	D;P	0.63880	0.993;0.951	P;P	0.58520	0.815;0.84	T	0.73154	-0.4072	8	0.72032	D	0.01	-11.3305	11.4799	0.50320	0.0:0.8182:0.1818:0.0	.	185;172	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	172;172;172;185	.	ENSP00000262952:S172C	S	+	2	0	UHRF1	4881834	0.927000	0.31430	0.919000	0.36401	0.052000	0.14988	1.737000	0.38197	2.153000	0.67306	0.561000	0.74099	TCC		0.647	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		18	95	0	0	0	1	0	18	95				
TJP1	7082	broad.mit.edu	37	15	30024699	30024699	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:30024699G>A	ENST00000346128.6	-	15	2429	c.1955C>T	c.(1954-1956)cCa>cTa	p.P652L	TJP1_ENST00000400011.2_Missense_Mutation_p.P656L|TJP1_ENST00000545208.2_Missense_Mutation_p.P652L|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000356107.6_Missense_Mutation_p.P652L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	652	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)		ATCAGCTATTGGTCCAAAAAT	0.373																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				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						c.(1954-1956)cCa>cTa		tight junction protein 1							112.0	102.0	105.0					15																	30024699		1809	4080	5889	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30024699G>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.1955C>T	15.37:g.30024699G>A	ENSP00000281537:p.Pro652Leu					TJP1_ENST00000545208.2_Missense_Mutation_p.P652L|TJP1_ENST00000356107.6_Missense_Mutation_p.P652L|TJP1_ENST00000400011.2_Missense_Mutation_p.P656L	p.P652L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	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)	15	2429	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	652			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1955C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123383	0.94429	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.32515	1.48;1.75;1.78;1.45	5.82	5.82	0.92795	Guanylate kinase/L-type calcium channel (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74520	-0.3638	9	.	.	.	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	645;652;652;656	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	652;656;652;652;652	ENSP00000281537:P652L;ENSP00000382890:P656L;ENSP00000441202:P652L;ENSP00000348416:P652L	.	P	-	2	0	TJP1	27811991	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.006000	0.88564	2.745000	0.94114	0.655000	0.94253	CCA		0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		27	94	0	0	0	1	0	27	94				
AP5B1	91056	broad.mit.edu	37	11	65545761	65545761	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:65545761G>T	ENST00000532090.2	-	2	2413	c.2203C>A	c.(2203-2205)Ccc>Acc	p.P735T		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	735					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						AGCCGTGCGGGGGCCGGGCAT	0.647																																						ENST00000532090.2																			0				lung(1)	1						c.(2203-2205)Ccc>Acc		adaptor-related protein complex 5, beta 1 subunit							27.0	33.0	31.0					11																	65545761		2114	4217	6331	SO:0001583	missense	91056						protein binding	g.chr11:65545761G>T	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2203C>A	11.37:g.65545761G>T	ENSP00000454303:p.Pro735Thr						p.P735T	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	2413	-			678					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.2203C>A	CCDS58146.1																																																																																				0.647	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		7	51	1	0	1.12685e-05	1	1.18692e-05	7	51				
CENPE	1062	broad.mit.edu	37	4	104079981	104079981	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:104079981C>T	ENST00000265148.3	-	23	2753	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	CENPE_ENST00000380026.3_Silent_p.E863E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	888					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GCTGTTCCATCTCATTTAGTC	0.363																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(2662-2664)gaG>gaA		centromere protein E, 312kDa							72.0	70.0	71.0					4																	104079981		2203	4299	6502	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104079981C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2664G>A	4.37:g.104079981C>T						CENPE_ENST00000380026.3_Silent_p.E863E	p.E888E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	23	2753	-			888					A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.2664G>A	CCDS34042.1																																																																																				0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	31	0	0	0	1	0	10	31				
ABHD14B	84836	broad.mit.edu	37	3	52003451	52003451	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:52003451C>T	ENST00000483233.1	-	5	1130	c.624G>A	c.(622-624)ggG>ggA	p.G208G	ABHD14B_ENST00000395008.2_Silent_p.G208G|PCBP4_ENST00000428823.2_5'Flank|PCBP4_ENST00000395013.3_5'Flank|PCBP4_ENST00000484633.1_5'Flank|ABHD14B_ENST00000525795.1_Silent_p.G208G|PCBP4_ENST00000461554.1_5'Flank|ABHD14B_ENST00000315877.10_Silent_p.G206G|PCBP4_ENST00000355852.2_5'Flank|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000461108.1_3'UTR|ABHD14B_ENST00000361143.5_Silent_p.G208G|RP11-155D18.14_ENST00000489595.2_Intron			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	208					metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		TTCACTGGAGCCCCTGCAGGA	0.632																																						ENST00000315877.10																			0				large_intestine(2)|lung(1)	3						c.(616-618)ggG>ggA		abhydrolase domain containing 14B							57.0	59.0	58.0					3																	52003451		2203	4299	6502	SO:0001819	synonymous_variant	84836					cytoplasm|nucleus	hydrolase activity	g.chr3:52003451C>T	AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"""Abhydrolase domain containing"""	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.624G>A	3.37:g.52003451C>T						ABHD14B_ENST00000395008.2_Silent_p.G208G|ABHD14B_ENST00000461108.1_3'UTR|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000361143.5_Silent_p.G208G|ABHD14B_ENST00000483233.1_Silent_p.G208G|ABHD14B_ENST00000525795.1_Silent_p.G208G	p.G206G			Q96IU4	ABHEB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)	6	1311	-			208					Q86VK8|Q8N8W5	Silent	SNP	ENST00000483233.1	37	c.618G>A	CCDS2842.1																																																																																				0.632	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349673.1	NM_032750		18	55	0	0	0	1	0	18	55				
HNRNPU	3192	broad.mit.edu	37	1	245027113	245027113	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:245027113G>T	ENST00000283179.9	-	1	660	c.497C>A	c.(496-498)cCg>cAg	p.P166Q	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.P166Q			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	166	Gln-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTGCGTCGCCGGCGGTTGAGG	0.711																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(496-498)cCg>cAg		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							11.0	13.0	13.0					1																	245027113		2128	4222	6350	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027113G>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.497C>A	1.37:g.245027113G>T	ENSP00000283179:p.Pro166Gln					HNRNPU_ENST00000283179.9_Missense_Mutation_p.P166Q	p.P166Q	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	731	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		166			Gln-rich.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.497C>A	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	g	11.76	1.734758	0.30774	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.42131	0.98;1.02	4.34	3.35	0.38373	.	0.747059	0.11552	U	0.552712	T	0.23289	0.0563	N	0.14661	0.345	0.31729	N	0.637242	B;B	0.12630	0.006;0.004	B;B	0.08055	0.001;0.003	T	0.19549	-1.0302	10	0.13853	T	0.58	-4.243	8.8335	0.35098	0.0:0.0:0.6342:0.3658	.	166;166	Q00839-2;Q00839	.;HNRPU_HUMAN	Q	166;166;91	ENSP00000393151:P166Q;ENSP00000283179:P166Q	ENSP00000283179:P166Q	P	-	2	0	HNRNPU	243093736	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.733000	0.26087	1.951000	0.56629	0.457000	0.33378	CCG		0.711	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		4	17	1	0	0.00909568	1	0.00920751	4	17				
SETDB2	83852	broad.mit.edu	37	13	50065014	50065014	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr13:50065014G>A	ENST00000317257.8	+	14	2835	c.2010G>A	c.(2008-2010)agG>agA	p.R670R	SETDB2_ENST00000354234.4_Silent_p.R658R	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	670	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CACACAACAGGAATTTTCCAT	0.323																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1972-1974)agG>agA		SET domain, bifurcated 2							97.0	91.0	93.0					13																	50065014		2203	4299	6502	SO:0001819	synonymous_variant	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50065014G>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.2010G>A	13.37:g.50065014G>A						SETDB2_ENST00000317257.8_Silent_p.R670R	p.R658R	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	13	2880	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	670			SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	ENST00000317257.8	37	c.1974G>A	CCDS9417.1																																																																																				0.323	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		15	24	0	0	0	1	0	15	24				
SDK1	221935	broad.mit.edu	37	7	4304782	4304782	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:4304782G>C	ENST00000404826.2	+	45	6547	c.6408G>C	c.(6406-6408)gcG>gcC	p.A2136A	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.A2116A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2136					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGAGGACGCGCTGCCCAAGC	0.682																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(6406-6408)gcG>gcC		sidekick cell adhesion molecule 1							67.0	69.0	68.0					7																	4304782		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4304782G>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6408G>C	7.37:g.4304782G>C						SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.A2116A	p.A2136A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	45	6547	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2136					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.6408G>C	CCDS34590.1																																																																																				0.682	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		6	38	0	0	0	1	0	6	38				
ZNF212	7988	broad.mit.edu	37	7	148947825	148947825	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:148947825G>A	ENST00000335870.2	+	3	596	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	156	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGGAATGGGAGAATCTGGAGG	0.488																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(466-468)gaG>gaA		zinc finger protein 212							182.0	176.0	178.0					7																	148947825		2203	4300	6503	SO:0001819	synonymous_variant	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947825G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.468G>A	7.37:g.148947825G>A							p.E156E	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		3	596	+	Melanoma(164;0.15)		156			KRAB.		B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	c.468G>A	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.357958	0.24598	.	.	ENSG00000170260	ENST00000481584	T	0.01871	4.59	5.44	5.44	0.79542	.	0.000000	0.45606	D	0.000353	T	0.03305	0.0096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61247	-0.7101	7	0.09338	T	0.73	-19.9692	16.7613	0.85513	0.0:0.0:1.0:0.0	.	.	.	.	K	54	ENSP00000419419:E54K	ENSP00000419419:E54K	E	+	1	0	ZNF212	148578758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.269000	0.43346	2.558000	0.86282	0.655000	0.94253	GAA		0.488	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		20	75	0	0	0	1	0	20	75				
ZMYM3	9203	broad.mit.edu	37	X	70460923	70460923	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrX:70460923T>C	ENST00000353904.2	-	25	4143	c.3956A>G	c.(3955-3957)tAc>tGc	p.Y1319C	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.Y1307C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Y1321C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Y1319C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Y1229C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1319					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGTTGCAGGTAGAACACATC	0.572																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3919-3921)tAc>tGc		zinc finger, MYM-type 3							67.0	51.0	57.0					X																	70460923		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70460923T>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3956A>G	X.37:g.70460923T>C	ENSP00000343909:p.Tyr1319Cys					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.Y1319C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Y1319C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Y1321C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Y1229C	p.Y1307C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			25	4617	-	Renal(35;0.156)		1319					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3920A>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	17.42	3.383934	0.61845	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.74947	-0.31;-0.89;-0.31;0.1;-0.31	4.6	4.6	0.57074	.	0.211578	0.32901	N	0.005502	D	0.84915	0.5578	M	0.73962	2.25	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86860	0.2029	10	0.87932	D	0	-4.5067	13.2479	0.60033	0.0:0.0:0.0:1.0	.	1307;1319	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1319;1307;1319;1229;1321	ENSP00000322845:Y1319C;ENSP00000363110:Y1307C;ENSP00000343909:Y1319C;ENSP00000363096:Y1229C;ENSP00000363100:Y1321C	ENSP00000322845:Y1319C	Y	-	2	0	ZMYM3	70377648	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.525000	0.81892	1.698000	0.51180	0.481000	0.45027	TAC		0.572	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	18	0	0	0	1	0	6	18				
KIFAP3	22920	broad.mit.edu	37	1	170024529	170024529	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:170024529G>C	ENST00000361580.2	-	2	308	c.81C>G	c.(79-81)ctC>ctG	p.L27L	KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000367765.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	27					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTGAACAATGAGTGCTTTTT	0.348																																						ENST00000361580.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(79-81)ctC>ctG		kinesin-associated protein 3							108.0	103.0	105.0					1																	170024529		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170024529G>C	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.81C>G	1.37:g.170024529G>C						KIFAP3_ENST00000367765.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000538366.1_5'UTR	p.L27L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN			2	308	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		27					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.81C>G	CCDS1288.1																																																																																				0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		7	34	0	0	0	1	0	7	34				
MOB1A	55233	broad.mit.edu	37	2	74386310	74386310	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:74386310G>A	ENST00000396049.4	-	5	674	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	161					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										TGATAAATATGGGCATAAACC	0.398																																						ENST00000396049.3																			0											c.(481-483)Cat>Tat		MOB kinase activator 1A							125.0	121.0	123.0					2																	74386310		1911	4124	6035	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74386310G>A		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.481C>T	2.37:g.74386310G>A	ENSP00000379364:p.His161Tyr					MOB1A_ENST00000497054.1_5'UTR	p.H161Y	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN			5	674	-			161					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.481C>T	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074266	0.94000	.	.	ENSG00000114978	ENST00000396049	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93472	0.6820	9	0.87932	D	0	.	16.9412	0.86218	0.0:0.0:1.0:0.0	.	161	Q9H8S9	MOB1A_HUMAN	Y	161	.	ENSP00000379364:H161Y	H	-	1	0	MOBKL1B	74239818	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.619000	0.98369	2.941000	0.99782	0.655000	0.94253	CAT		0.398	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221		12	62	0	0	0	1	0	12	62				
MAP4K1	11184	broad.mit.edu	37	19	39090740	39090740	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:39090740C>T	ENST00000591517.1	-	21	1613	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D529N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D525N|MAP4K1_ENST00000423454.2_Missense_Mutation_p.D191N|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	529	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTCCTGGTCATTCCGGTTC	0.627																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1585-1587)Gac>Aac		mitogen-activated protein kinase kinase kinase kinase 1							59.0	61.0	61.0					19																	39090740		2055	4192	6247	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090740C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1585G>A	19.37:g.39090740C>T	ENSP00000465039:p.Asp529Asn					MAP4K1_ENST00000589130.1_Missense_Mutation_p.D525N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D529N|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Missense_Mutation_p.D191N	p.D529N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	1613	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		529			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1585G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.540793	0.85917	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.04654	3.6;3.58	4.93	4.93	0.64822	Citron-like (3);	0.377447	0.29830	N	0.011093	T	0.12475	0.0303	L	0.40543	1.245	0.31188	N	0.701313	D;B;B	0.56746	0.977;0.372;0.425	P;B;B	0.59703	0.862;0.21;0.315	T	0.00279	-1.1853	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	191;529;529	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	N	529;529;191	ENSP00000380066:D529N;ENSP00000396383:D191N	ENSP00000221409:D529N	D	-	1	0	MAP4K1	43782580	0.997000	0.39634	0.998000	0.56505	0.988000	0.76386	2.958000	0.49145	2.578000	0.87016	0.555000	0.69702	GAC		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		10	54	0	0	0	1	0	10	54				
MICAL3	57553	broad.mit.edu	37	22	18301781	18301781	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr22:18301781G>C	ENST00000441493.2	-	26	3998	c.3646C>G	c.(3646-3648)Ctg>Gtg	p.L1216V		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1216	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACAGCTTTCAGATCCGAGGGG	0.622																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(3646-3648)Ctg>Gtg		microtubule associated monooxygenase, calponin and LIM domain containing 3							18.0	21.0	20.0					22																	18301781		1956	4132	6088	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301781G>C	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3646C>G	22.37:g.18301781G>C	ENSP00000416015:p.Leu1216Val						p.L1216V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	3998	-		all_epithelial(15;0.198)	1216			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3646C>G	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.614|8.614	0.889748|0.889748	0.17540|0.17540	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.60797	.|0.16	4.48|4.48	3.44|3.44	0.39384|0.39384	.|.	.|.	.|.	.|.	.|.	T|T	0.38321|0.38321	0.1036|0.1036	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.09377	.|0.004	T|T	0.21552|0.21552	-1.0242|-1.0242	5|9	.|0.33940	.|T	.|0.23	.|.	9.0454|9.0454	0.36343|0.36343	0.0:0.3977:0.4444:0.1579|0.0:0.3977:0.4444:0.1579	.|.	.|1216	.|Q7RTP6	.|MICA3_HUMAN	M|V	197|1216	.|ENSP00000416015:L1216V	.|ENSP00000416015:L1216V	I|L	-|-	3|1	3|2	XXbac-B461K10.4|XXbac-B461K10.4	16681781|16681781	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.062000|1.062000	0.30555|0.30555	0.864000|0.864000	0.35578|0.35578	0.563000|0.563000	0.77884|0.77884	ATC|CTG		0.622	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	34	0	0	0	1	0	7	34				
SCP2D1	140856	broad.mit.edu	37	20	18794486	18794486	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:18794486C>G	ENST00000377428.2	+	1	117	c.27C>G	c.(25-27)ccC>ccG	p.P9P	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	9																	ACCATCAACCCAAGATCAAAG	0.517																																						ENST00000377428.2																			0											c.(25-27)ccC>ccG		SCP2 sterol-binding domain containing 1							116.0	110.0	112.0					20																	18794486		2203	4300	6503	SO:0001819	synonymous_variant	140856							g.chr20:18794486C>G	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.27C>G	20.37:g.18794486C>G						C20orf78_ENST00000278779.4_Intron	p.P9P	NM_178483.2	NP_848578.1					1	117	+								Q548A4	Silent	SNP	ENST00000377428.2	37	c.27C>G	CCDS13139.1																																																																																				0.517	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		5	44	0	0	0	1	0	5	44				
ABRA	137735	broad.mit.edu	37	8	107782176	107782176	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:107782176C>T	ENST00000311955.3	-	1	297	c.243G>A	c.(241-243)tcG>tcA	p.S81S		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.S81S(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGCGGGGTGGCGACTTTGGGG	0.552																																						ENST00000311955.3																			1	Substitution - coding silent(1)	p.S81S(1)	large_intestine(1)	breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(241-243)tcG>tcA		actin-binding Rho activating protein							98.0	98.0	98.0					8																	107782176		2203	4300	6503	SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782176C>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.243G>A	8.37:g.107782176C>T							p.S81S	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	297	-			81						Silent	SNP	ENST00000311955.3	37	c.243G>A	CCDS6305.1																																																																																				0.552	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		15	88	0	0	0	1	0	15	88				
FGD3	89846	broad.mit.edu	37	9	95792158	95792158	+	Silent	SNP	C	C	G	rs546814653		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr9:95792158C>G	ENST00000375482.3	+	15	2056	c.1560C>G	c.(1558-1560)ctC>ctG	p.L520L	FGD3_ENST00000538555.1_Silent_p.L123L|FGD3_ENST00000416701.2_Silent_p.L520L|FGD3_ENST00000337352.6_Silent_p.L520L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	520					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						CCTTATAGCTCGAGCCCAGAA	0.517																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1558-1560)ctC>ctG		FYVE, RhoGEF and PH domain containing 3							89.0	94.0	92.0					9																	95792158		2075	4206	6281	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.chr9:95792158C>G	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.1560C>G	9.37:g.95792158C>G						FGD3_ENST00000416701.2_Silent_p.L520L|FGD3_ENST00000538555.1_Silent_p.L123L|FGD3_ENST00000337352.6_Silent_p.L520L	p.L520L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			15	2056	+			520					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1560C>G	CCDS43849.1																																																																																				0.517	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		5	62	0	0	0	1	0	5	62				
LRCH4	4034	broad.mit.edu	37	7	100173388	100173388	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:100173388G>C	ENST00000310300.6	-	17	1846	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Silent_p.L146L	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	598	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCGAGCCTTGAGGGCACTGA	0.577																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1792-1794)ctC>ctG		leucine-rich repeats and calponin homology (CH) domain containing 4							135.0	140.0	138.0					7																	100173388		2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100173388G>C	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1794C>G	7.37:g.100173388G>C						LRCH4_ENST00000497245.1_Silent_p.L146L	p.L598L	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			17	1846	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		598			CH.		A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.1794C>G	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	G	7.744	0.701863	0.15172	.	.	ENSG00000077454	ENST00000485554	.	.	.	4.4	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.531	10.9722	0.47446	0.0:0.3682:0.6317:0.0	.	.	.	.	X	123	.	.	S	-	2	0	LRCH4	100011324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.873000	0.28052	1.181000	0.42912	0.555000	0.69702	TCA		0.577	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		30	221	0	0	0	1	0	30	221				
TENM2	57451	broad.mit.edu	37	5	167653184	167653184	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:167653184G>C	ENST00000518659.1	+	24	5239	c.5200G>C	c.(5200-5202)Gac>Cac	p.D1734H	TENM2_ENST00000519204.1_Missense_Mutation_p.D1613H|TENM2_ENST00000403607.2_Missense_Mutation_p.D1558H|TENM2_ENST00000545108.1_Missense_Mutation_p.D1733H|TENM2_ENST00000520394.1_Missense_Mutation_p.D1495H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1734					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)										TATTACCATTGACATTGAGAA	0.552																																						ENST00000519204.1																			0											c.(4837-4839)Gac>Cac		teneurin transmembrane protein 2							65.0	67.0	66.0					5																	167653184		2005	4165	6170	SO:0001583	missense	57451							g.chr5:167653184G>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.5200G>C	5.37:g.167653184G>C	ENSP00000429430:p.Asp1734His					TENM2_ENST00000520394.1_Missense_Mutation_p.D1495H|TENM2_ENST00000518659.1_Missense_Mutation_p.D1734H|TENM2_ENST00000403607.2_Missense_Mutation_p.D1558H|TENM2_ENST00000545108.1_Missense_Mutation_p.D1733H	p.D1613H							23	4955	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4837G>C		.	.	.	.	.	.	.	.	.	.	G	22.4	4.283271	0.80803	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89552	-2.06;-2.06;-2.16;-2.52;-2.53	5.08	5.08	0.68730	.	0.041779	0.85682	D	0.000000	D	0.93867	0.8038	M	0.65975	2.015	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.971;0.998	D	0.93837	0.7133	10	0.54805	T	0.06	.	18.8316	0.92143	0.0:0.0:1.0:0.0	.	1733;1734;1495	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	1734;1733;1613;1495;1558	ENSP00000429430:D1734H;ENSP00000438635:D1733H;ENSP00000428964:D1613H;ENSP00000427874:D1495H;ENSP00000384905:D1558H	ENSP00000384905:D1558H	D	+	1	0	ODZ2	167585762	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.823000	0.86660	2.543000	0.85770	0.555000	0.69702	GAC		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	24	0	0	0	1	0	3	24				
LIPI	149998	broad.mit.edu	37	21	15517023	15517023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:15517023G>A	ENST00000536861.1	-	9	1215	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	AP001347.6_ENST00000428809.1_RNA|AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Nonsense_Mutation_p.Q427*			Q6XZB0	LIPI_HUMAN	lipase, member I	406					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGAGCTCTGGAAATATGTC	0.308																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(1279-1281)Cag>Tag		lipase, member I							76.0	81.0	79.0					21																	15517023		2203	4296	6499	SO:0001587	stop_gained	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15517023G>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1216C>T	21.37:g.15517023G>A	ENSP00000440381:p.Gln406*					LIPI_ENST00000536861.1_Nonsense_Mutation_p.Q406*	p.Q427*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	9	1304	-			406					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Nonsense_Mutation	SNP	ENST00000536861.1	37	c.1279C>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.950365	0.73787	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	.	.	.	5.34	5.34	0.76211	.	0.747066	0.13069	N	0.416300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	14.9043	0.70706	0.0:0.0:1.0:0.0	.	.	.	.	X	427;406	.	ENSP00000343331:Q427X	Q	-	1	0	LIPI	14438894	0.998000	0.40836	0.830000	0.32933	0.354000	0.29330	4.230000	0.58632	2.654000	0.90174	0.650000	0.86243	CAG		0.308	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		9	80	0	0	0	1	0	9	80				
EIF2B5	8893	broad.mit.edu	37	3	183861984	183861984	+	Missense_Mutation	SNP	A	A	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:183861984A>C	ENST00000273783.3	+	14	2089	c.1967A>C	c.(1966-1968)cAt>cCt	p.H656P	EIF2B5_ENST00000444495.1_Missense_Mutation_p.H656P	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	656	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCCTAGAGCATGAAGCTCTT	0.502																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(1966-1968)cAt>cCt		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							148.0	144.0	145.0					3																	183861984		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183861984A>C	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1967A>C	3.37:g.183861984A>C	ENSP00000273783:p.His656Pro					EIF2B5_ENST00000444495.1_Missense_Mutation_p.H656P	p.H656P	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		14	2089	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		656			W2.		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.1967A>C	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	a	13.63	2.294370	0.40594	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	T;T	0.80033	-1.33;-1.33	5.83	5.83	0.93111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.148257	0.64402	D	0.000008	D	0.82967	0.5152	L	0.43923	1.385	0.54753	D	0.99998	B;D	0.58620	0.026;0.983	B;P	0.56127	0.029;0.792	T	0.81588	-0.0864	10	0.33141	T	0.24	.	16.2025	0.82095	1.0:0.0:0.0:0.0	.	656;656	E9PC74;Q13144	.;EI2BE_HUMAN	P	656	ENSP00000273783:H656P;ENSP00000409142:H656P	ENSP00000273783:H656P	H	+	2	0	EIF2B5	185344678	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	8.604000	0.90877	2.231000	0.72958	0.459000	0.35465	CAT		0.502	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			70	200	0	0	0	1	0	70	200				
COL9A1	1297	broad.mit.edu	37	6	70952388	70952388	+	Missense_Mutation	SNP	A	A	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:70952388A>T	ENST00000357250.6	-	29	2061	c.1903T>A	c.(1903-1905)Tcc>Acc	p.S635T	COL9A1_ENST00000370499.4_Missense_Mutation_p.S392T|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.S392T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	635	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGCCTGGGGATCCCACTGGT	0.353																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1903-1905)Tcc>Acc		collagen, type IX, alpha 1							121.0	116.0	118.0					6																	70952388		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70952388A>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1903T>A	6.37:g.70952388A>T	ENSP00000349790:p.Ser635Thr					COL9A1_ENST00000320755.7_Missense_Mutation_p.S392T|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.S392T	p.S635T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			29	2061	-			635			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1903T>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	A	9.547	1.114907	0.20795	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93604	-3.25;-3.25;-3.25	6.06	1.93	0.25924	.	0.193010	0.56097	D	0.000029	T	0.78130	0.4235	N	0.10916	0.065	0.28241	N	0.925692	P;B;B	0.42649	0.786;0.332;0.065	P;B;B	0.49502	0.613;0.279;0.103	T	0.75578	-0.3269	10	0.17832	T	0.49	.	7.5827	0.27974	0.1043:0.5319:0.3638:0.0	.	635;392;208	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	T	635;392;392	ENSP00000349790:S635T;ENSP00000315252:S392T;ENSP00000359530:S392T	ENSP00000315252:S392T	S	-	1	0	COL9A1	71009109	1.000000	0.71417	0.988000	0.46212	0.411000	0.31082	3.078000	0.50096	0.047000	0.15862	-0.213000	0.12676	TCC		0.353	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	49	0	0	0	1	0	7	49				
PLD5	200150	broad.mit.edu	37	1	242253286	242253286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:242253286C>T	ENST00000536534.2	-	10	1722	c.1481G>A	c.(1480-1482)tGg>tAg	p.W494*	PLD5_ENST00000442594.2_Nonsense_Mutation_p.W402*|PLD5_ENST00000427495.1_Nonsense_Mutation_p.W432*			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	494						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGGTGAATACCAGTCCCTTTC	0.468																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1204-1206)tGg>tAg		phospholipase D family, member 5							275.0	250.0	258.0					1																	242253286		2203	4300	6503	SO:0001587	stop_gained	200150					integral to membrane	catalytic activity	g.chr1:242253286C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1481G>A	1.37:g.242253286C>T	ENSP00000440896:p.Trp494*					PLD5_ENST00000427495.1_Nonsense_Mutation_p.W432*|PLD5_ENST00000536534.1_Nonsense_Mutation_p.W494*	p.W402*	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		11	1714	-	Melanoma(84;0.242)		494					A1KXV0|B7Z324|Q494U9|Q8NB22	Nonsense_Mutation	SNP	ENST00000536534.2	37	c.1205G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	37	6.621068	0.97714	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8145	17.7645	0.88473	0.0:1.0:0.0:0.0	.	.	.	.	X	432;402;494	.	ENSP00000401285:W432X	W	-	2	0	PLD5	240319909	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.426000	0.73374	2.723000	0.93209	0.655000	0.94253	TGG		0.468	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		27	198	0	0	0	1	0	27	198				
FGD6	55785	broad.mit.edu	37	12	95535261	95535261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:95535261C>A	ENST00000343958.4	-	6	2963	c.2740G>T	c.(2740-2742)Gag>Tag	p.E914*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.E914*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E914*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	914	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)	p.E914Q(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCCGGTCCTCAATCACTGGT	0.453																																						ENST00000343958.4																			1	Substitution - Missense(1)	p.E914Q(1)	cervix(1)	breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2740-2742)Gag>Tag		FYVE, RhoGEF and PH domain containing 6							124.0	113.0	117.0					12																	95535261		2203	4300	6503	SO:0001587	stop_gained	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535261C>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2740G>T	12.37:g.95535261C>A	ENSP00000344446:p.Glu914*					FGD6_ENST00000549499.1_Nonsense_Mutation_p.E914*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E914*	p.E914*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			6	2963	-			914			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	c.2740G>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	42	9.503977	0.99189	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	.	.	.	5.66	5.66	0.87406	.	0.000000	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-28.0573	19.7628	0.96329	0.0:1.0:0.0:0.0	.	.	.	.	X	914	.	ENSP00000344446:E914X	E	-	1	0	FGD6	94059392	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.430000	0.80321	2.653000	0.90120	0.563000	0.77884	GAG		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		6	69	1	0	0.0215528	1	0.0217287	6	69				
SAPCD1	401251	broad.mit.edu	37	6	31732230	31732230	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:31732230G>A	ENST00000425424.1	+	4	428	c.369G>A	c.(367-369)caG>caA	p.Q123Q	SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000534153.4_3'UTR|VWA7_ENST00000467576.1_5'Flank|SAPCD1_ENST00000415669.2_Silent_p.Q153Q|MSH5-SAPCD1_ENST00000493662.2_3'UTR			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	123																	CAAGGCAGCAGAAAGGAGTCA	0.607																																						ENST00000415669.2																			0											c.(457-459)caG>caA		suppressor APC domain containing 1							50.0	54.0	53.0					6																	31732230		2203	4300	6503	SO:0001819	synonymous_variant	401251							g.chr6:31732230G>A		CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.369G>A	6.37:g.31732230G>A						SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000425424.1_Silent_p.Q123Q|MSH5_ENST00000534153.4_3'UTR|MSH5-SAPCD1_ENST00000493662.2_3'UTR	p.Q153Q	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN			5	518	+			123					A2ABF2|A2ABS9|Q9Y335	Silent	SNP	ENST00000425424.1	37	c.459G>A																																																																																					0.607	SAPCD1-203	KNOWN	basic	protein_coding	protein_coding		NM_001039651		14	46	0	0	0	1	0	14	46				
C6orf10	10665	broad.mit.edu	37	6	32261774	32261774	+	Nonsense_Mutation	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:32261774T>A	ENST00000447241.2	-	23	848	c.676A>T	c.(676-678)Aaa>Taa	p.K226*	C6orf10_ENST00000527965.1_Nonsense_Mutation_p.K210*|C6orf10_ENST00000442822.2_Nonsense_Mutation_p.K217*|C6orf10_ENST00000375007.4_Nonsense_Mutation_p.K224*|C6orf10_ENST00000533191.1_Nonsense_Mutation_p.K224*|C6orf10_ENST00000375015.4_Nonsense_Mutation_p.K225*	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	226						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GAACAAGATTTTTTTGCAAGT	0.333																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(673-675)Aaa>Taa		chromosome 6 open reading frame 10							85.0	101.0	95.0					6																	32261774		1508	2708	4216	SO:0001587	stop_gained	10665					integral to membrane		g.chr6:32261774T>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.676A>T	6.37:g.32261774T>A	ENSP00000415517:p.Lys226*					C6orf10_ENST00000375007.4_Nonsense_Mutation_p.K224*|C6orf10_ENST00000442822.2_Nonsense_Mutation_p.K217*|C6orf10_ENST00000533191.1_Nonsense_Mutation_p.K224*|C6orf10_ENST00000447241.2_Nonsense_Mutation_p.K226*|C6orf10_ENST00000527965.1_Nonsense_Mutation_p.K210*	p.K225*			Q5SRN2	CF010_HUMAN			26	873	-			226					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Nonsense_Mutation	SNP	ENST00000447241.2	37	c.673A>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889479	0.52014	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	.	.	.	3.35	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9157	6.7537	0.23501	0.0:0.0:0.3378:0.6622	.	.	.	.	X	217;226;225;224;210;224;225;223	.	ENSP00000303292:K223X	K	-	1	0	C6orf10	32369752	0.246000	0.23909	0.598000	0.28837	0.152000	0.21847	1.283000	0.33237	0.576000	0.29452	0.455000	0.32223	AAA		0.333	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		22	110	0	0	0	1	0	22	110				
FAT4	79633	broad.mit.edu	37	4	126240524	126240524	+	Silent	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:126240524C>A	ENST00000394329.3	+	1	2971	c.2958C>A	c.(2956-2958)gtC>gtA	p.V986V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	986	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGTTTATGTCCATGATGTAA	0.438																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2956-2958)gtC>gtA		FAT atypical cadherin 4							106.0	103.0	104.0					4																	126240524		1948	4142	6090	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240524C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2958C>A	4.37:g.126240524C>A							p.V986V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2971	+			986			Cadherin 9.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.2958C>A	CCDS3732.3																																																																																				0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	94	1	0	9.31168e-06	1	9.829e-06	13	94				
HLA-A	3105	broad.mit.edu	37	6	29910797	29910797	+	Nonsense_Mutation	SNP	G	G	T	rs41559912		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr6:29910797G>T	ENST00000396634.1	+	4	678	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	113	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|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)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAACCAGAGCGAGGCCGGTGA	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(337-339)Gag>Tag		major histocompatibility complex, class I, A							40.0	43.0	42.0					6																	29910797		2200	4292	6492	SO:0001587	stop_gained	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910797G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.337G>T	6.37:g.29910797G>T	ENSP00000379873:p.Glu113*	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113*	p.E113*			P30443	1A01_HUMAN			4	678	+			113			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.337G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	35	5.433768	0.96150	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.375	0.32438	0.0:0.2432:0.7568:0.0	.	.	.	.	X	113	.	ENSP00000348012:E113X	E	+	1	0	HLA-A	30018776	0.032000	0.19561	0.853000	0.33588	0.049000	0.14656	0.398000	0.20899	2.030000	0.59900	0.478000	0.44815	GAG		0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		10	15	1	0	1.33834e-09	1	1.45947e-09	10	15				
FERMT3	83706	broad.mit.edu	37	11	63978126	63978126	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:63978126G>A	ENST00000279227.5	+	3	299	c.204G>A	c.(202-204)caG>caA	p.Q68Q	FERMT3_ENST00000345728.5_Silent_p.Q68Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	68					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGGAACAGAAGAGGCAGT	0.632																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(202-204)caG>caA		fermitin family member 3							132.0	121.0	125.0					11																	63978126		2201	4297	6498	SO:0001819	synonymous_variant	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978126G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.204G>A	11.37:g.63978126G>A						FERMT3_ENST00000345728.5_Silent_p.Q68Q	p.Q68Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			3	299	+			68					Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	c.204G>A	CCDS8060.1																																																																																				0.632	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		42	152	0	0	0	1	0	42	152				
CASKIN2	57513	broad.mit.edu	37	17	73498195	73498195	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:73498195G>C	ENST00000321617.3	-	18	3546	c.2960C>G	c.(2959-2961)tCa>tGa	p.S987*	CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.S905*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	987	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACAGTGTCTGATTCCGTGAG	0.677																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2959-2961)tCa>tGa		CASK interacting protein 2							22.0	33.0	29.0					17																	73498195		2174	4257	6431	SO:0001587	stop_gained	57513					cytoplasm		g.chr17:73498195G>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2960C>G	17.37:g.73498195G>C	ENSP00000325355:p.Ser987*					CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.S905*	p.S987*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3546	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		987			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Nonsense_Mutation	SNP	ENST00000321617.3	37	c.2960C>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	46	12.499976	0.99673	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	.	.	.	5.17	5.17	0.71159	.	0.000000	0.38164	N	0.001796	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8538	0.92242	0.0:0.0:1.0:0.0	.	.	.	.	X	987;905	.	ENSP00000325355:S987X	S	-	2	0	CASKIN2	71009790	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.288000	0.96055	2.688000	0.91661	0.591000	0.81541	TCA		0.677	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		6	29	0	0	0	1	0	6	29				
CTNNAL1	8727	broad.mit.edu	37	9	111745538	111745538	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr9:111745538C>G	ENST00000325551.4	-	6	873	c.787G>C	c.(787-789)Gac>Cac	p.D263H	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D263H|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D263H	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	263					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCATACGGTCAAATACTCCT	0.333																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(787-789)Gac>Cac		catenin (cadherin-associated protein), alpha-like 1							145.0	134.0	138.0					9																	111745538		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745538C>G	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.787G>C	9.37:g.111745538C>G	ENSP00000320434:p.Asp263His					CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D263H|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D263H	p.D263H			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	866	-			263					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.787G>C	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643575	0.29246	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.38077	1.16;1.16;1.16	6.01	1.75	0.24633	.	0.448099	0.29080	N	0.013204	T	0.10852	0.0265	N	0.01109	-1.01	0.28896	N	0.893583	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13072	-1.0523	10	0.45353	T	0.12	-4.206	5.062	0.14562	0.0:0.4195:0.2656:0.3149	.	263;263;263	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	H	263	ENSP00000363723:D263H;ENSP00000320434:D263H;ENSP00000323351:D263H	ENSP00000320434:D263H	D	-	1	0	CTNNAL1	110785359	1.000000	0.71417	0.531000	0.27976	0.958000	0.62258	1.941000	0.40233	0.356000	0.24157	0.650000	0.86243	GAC		0.333	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		14	60	0	0	0	1	0	14	60				
PRMT8	56341	broad.mit.edu	37	12	3702326	3702326	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:3702326C>T	ENST00000382622.3	+	10	1553	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S379F	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	388	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACATCTGTATCTAATGACTAC	0.512																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1162-1164)tCt>tTt		protein arginine methyltransferase 8							91.0	78.0	82.0					12																	3702326		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3702326C>T	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1163C>T	12.37:g.3702326C>T	ENSP00000372067:p.Ser388Phe					PRMT8_ENST00000452611.2_Missense_Mutation_p.S379F|PRMT8_ENST00000261252.4_3'UTR	p.S388F	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		10	1553	+			388					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1163C>T	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582187	0.86748	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.38560	1.13;1.13	5.37	5.37	0.77165	.	0.047773	0.85682	D	0.000000	T	0.53690	0.1812	L	0.49126	1.545	0.80722	D	1	P;P	0.52463	0.953;0.758	P;P	0.55011	0.766;0.588	T	0.56098	-0.8035	10	0.87932	D	0	.	16.5992	0.84807	0.0:1.0:0.0:0.0	.	379;388	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	F	379;388	ENSP00000414507:S379F;ENSP00000372067:S388F	ENSP00000372067:S388F	S	+	2	0	PRMT8	3572587	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.713000	0.84693	2.526000	0.85167	0.313000	0.20887	TCT		0.512	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		4	29	0	0	0	1	0	4	29				
RIMBP2	23504	broad.mit.edu	37	12	130963477	130963477	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:130963477C>T	ENST00000261655.4	-	3	245	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	28					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGTCAATTTCCTGCTGCTTG	0.667																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(82-84)Gaa>Aaa		RIMS binding protein 2							51.0	54.0	53.0					12																	130963477		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130963477C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.82G>A	12.37:g.130963477C>T	ENSP00000261655:p.Glu28Lys					RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	p.E28K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	3	245	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	28					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.82G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145947	0.94603	.	.	ENSG00000060709	ENST00000261655	T	0.23950	1.88	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000001	T	0.52256	0.1723	M	0.80746	2.51	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.61347	-0.7081	10	0.87932	D	0	-18.4278	14.8603	0.70376	0.0:1.0:0.0:0.0	.	28	O15034	RIMB2_HUMAN	K	28	ENSP00000261655:E28K	ENSP00000261655:E28K	E	-	1	0	RIMBP2	129529430	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.626000	0.74253	1.788000	0.52465	0.491000	0.48974	GAA		0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		7	44	0	0	0	1	0	7	44				
MAP9	79884	broad.mit.edu	37	4	156276899	156276899	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:156276899C>G	ENST00000311277.4	-	9	1522	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T	AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.R396T|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000417474.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	420					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTATCTGCTCTATCAGGTTC	0.353																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1258-1260)aGa>aCa		microtubule-associated protein 9							84.0	85.0	85.0					4																	156276899		2202	4300	6502	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156276899C>G	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1259G>C	4.37:g.156276899C>G	ENSP00000310593:p.Arg420Thr					AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.R396T|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA	p.R420T	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	9	1522	-	all_hematologic(180;0.24)	Renal(120;0.0458)	420					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1259G>C	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763243	0.31228	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.29917	2.33;3.13;1.55	5.28	-3.29	0.05017	.	0.836464	0.10858	N	0.626462	T	0.25232	0.0613	L	0.44542	1.39	0.46798	D	0.9992	B;B;B	0.33238	0.131;0.253;0.403	B;B;B	0.33890	0.059;0.087;0.172	T	0.16808	-1.0390	10	0.51188	T	0.08	-0.4169	12.5084	0.55993	0.0:0.2029:0.0:0.7971	.	395;420;420	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	T	420;396;419	ENSP00000310593:R420T;ENSP00000427402:R396T;ENSP00000394048:R419T	ENSP00000310593:R420T	R	-	2	0	MAP9	156496349	0.804000	0.28969	0.188000	0.23233	0.719000	0.41307	-0.497000	0.06428	-0.513000	0.06496	-0.495000	0.04643	AGA		0.353	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		6	25	0	0	0	1	0	6	25				
IL5RA	3568	broad.mit.edu	37	3	3139829	3139829	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:3139829G>A	ENST00000446632.2	-	6	1087	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IL5RA_ENST00000438560.1_Silent_p.L171L|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000418488.2_Silent_p.L171L|IL5RA_ENST00000430514.2_Silent_p.L171L|IL5RA_ENST00000383846.1_Silent_p.L171L|IL5RA_ENST00000456302.1_Silent_p.L171L|IL5RA_ENST00000311981.8_Silent_p.L171L|IL5RA_ENST00000256452.3_Silent_p.L171L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	171					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACCTATAGTAGAGAAAATACT	0.418																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(511-513)ctC>ctT		interleukin 5 receptor, alpha							156.0	162.0	160.0					3																	3139829		2203	4300	6503	SO:0001819	synonymous_variant	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139829G>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.513C>T	3.37:g.3139829G>A						IL5RA_ENST00000256452.3_Silent_p.L171L|IL5RA_ENST00000456302.1_Silent_p.L171L|IL5RA_ENST00000383846.1_Silent_p.L171L|IL5RA_ENST00000438560.1_Silent_p.L171L|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Silent_p.L171L|IL5RA_ENST00000311981.8_Silent_p.L171L|IL5RA_ENST00000418488.2_Silent_p.L171L	p.L171L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	6	1087	-			171					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	c.513C>T	CCDS2559.1																																																																																				0.418	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			13	50	0	0	0	1	0	13	50				
TMEM45A	55076	broad.mit.edu	37	3	100275640	100275640	+	Missense_Mutation	SNP	A	A	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:100275640A>T	ENST00000323523.4	+	3	540	c.227A>T	c.(226-228)cAt>cTt	p.H76L	TMEM45A_ENST00000403410.1_Missense_Mutation_p.H92L|TMEM45A_ENST00000462884.1_3'UTR	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	76						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						GGAGGGCCCCATCTGATGTTA	0.448																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.(274-276)cAt>cTt		transmembrane protein 45A							110.0	96.0	100.0					3																	100275640		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100275640A>T	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.227A>T	3.37:g.100275640A>T	ENSP00000319009:p.His76Leu					TMEM45A_ENST00000323523.4_Missense_Mutation_p.H76L|TMEM45A_ENST00000462884.1_3'UTR	p.H92L			Q9NWC5	TM45A_HUMAN			5	895	+			76					Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.275A>T	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	A	8.019	0.759233	0.15846	.	.	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.48201	1.36;1.34;0.82	5.95	2.04	0.26737	.	0.654021	0.17454	N	0.173681	T	0.45736	0.1357	M	0.83384	2.64	0.09310	N	1	B;B	0.24823	0.112;0.025	B;B	0.19148	0.024;0.02	T	0.37103	-0.9720	10	0.23891	T	0.37	0.6536	8.11	0.30909	0.6077:0.3224:0.0699:0.0	.	92;76	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	L	76;92;92	ENSP00000319009:H76L;ENSP00000385089:H92L;ENSP00000405597:H92L	ENSP00000319009:H76L	H	+	2	0	TMEM45A	101758330	0.004000	0.15560	0.000000	0.03702	0.095000	0.18619	2.170000	0.42443	0.082000	0.17018	-0.290000	0.09829	CAT		0.448	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		6	20	0	0	0	1	0	6	20				
DHX36	170506	broad.mit.edu	37	3	153994063	153994063	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:153994063C>T	ENST00000496811.1	-	25	3004	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K	DHX36_ENST00000329463.5_Missense_Mutation_p.R961K|DHX36_ENST00000308361.6_Missense_Mutation_p.R946K|DHX36_ENST00000544526.1_Missense_Mutation_p.R961K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	975					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGCACAGTCTCTGGATTTAGT	0.403																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2923-2925)aGa>aAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							145.0	138.0	140.0					3																	153994063		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:153994063C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2924G>A	3.37:g.153994063C>T	ENSP00000417078:p.Arg975Lys					DHX36_ENST00000544526.1_Missense_Mutation_p.R961K|DHX36_ENST00000308361.6_Missense_Mutation_p.R946K|DHX36_ENST00000329463.5_Missense_Mutation_p.R961K	p.R975K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		25	3004	-			975					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2924G>A	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952944	0.34471	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.03330	4.15;4.07;3.97;3.98	5.82	4.95	0.65309	.	0.040960	0.85682	D	0.000000	T	0.02807	0.0084	N	0.17800	0.525	0.38739	D	0.953859	B;B;B	0.19445	0.029;0.011;0.036	B;B;B	0.12156	0.005;0.007;0.003	T	0.22661	-1.0210	10	0.02654	T	1	.	15.1133	0.72375	0.0:0.9318:0.0:0.0682	.	961;946;975	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	K	975;946;961;961	ENSP00000417078:R975K;ENSP00000309296:R946K;ENSP00000444247:R961K;ENSP00000330113:R961K	ENSP00000309296:R946K	R	-	2	0	DHX36	155476757	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.356000	0.66052	1.455000	0.47813	0.557000	0.71058	AGA		0.403	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		10	116	0	0	0	1	0	10	116				
NCAPD2	9918	broad.mit.edu	37	12	6619268	6619268	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:6619268C>G	ENST00000315579.5	+	4	1030	c.231C>G	c.(229-231)ctC>ctG	p.L77L	NCAPD2_ENST00000545962.1_Intron|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	77	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATCCTGGCCTCAAAGAAGATA	0.448																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(229-231)ctC>ctG		non-SMC condensin I complex, subunit D2							96.0	95.0	95.0					12																	6619268		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6619268C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.231C>G	12.37:g.6619268C>G						NCAPD2_ENST00000545962.1_Intron	p.L77L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			4	1030	+			77			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.231C>G	CCDS8548.1																																																																																				0.448	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		9	68	0	0	0	1	0	9	68				
CRX	1406	broad.mit.edu	37	19	48343025	48343025	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:48343025T>G	ENST00000221996.7	+	4	907	c.701T>G	c.(700-702)cTt>cGt	p.L234R	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.L234R	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	234					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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 transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GGCCCGGCTCTTAGCCCCCTC	0.652																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(700-702)cTt>cGt		cone-rod homeobox							93.0	110.0	104.0					19																	48343025		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343025T>G	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.701T>G	19.37:g.48343025T>G	ENSP00000221996:p.Leu234Arg					CRX_ENST00000539067.1_Missense_Mutation_p.L234R|TPRX2P_ENST00000535362.1_Intron	p.L234R	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	907	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	234					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.701T>G	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593749	0.46214	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90563	-2.69;-2.69	4.21	3.16	0.36331	Transcription factor Otx, C-terminal (1);	0.252453	0.31507	N	0.007535	D	0.88901	0.6563	M	0.75447	2.3	0.47949	D	0.999553	B	0.24618	0.107	B	0.26614	0.071	D	0.85264	0.1052	10	0.72032	D	0.01	-15.391	8.8926	0.35444	0.0:0.0:0.1889:0.811	.	234	O43186	CRX_HUMAN	R	234	ENSP00000221996:L234R;ENSP00000445565:L234R	ENSP00000221996:L234R	L	+	2	0	CRX	53034837	1.000000	0.71417	0.744000	0.31058	0.437000	0.31866	4.474000	0.60203	0.623000	0.30267	0.383000	0.25322	CTT		0.652	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		7	159	0	0	0	1	0	7	159				
CHRNA9	55584	broad.mit.edu	37	4	40337915	40337915	+	Missense_Mutation	SNP	C	C	G	rs370590960		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:40337915C>G	ENST00000310169.2	+	2	275	c.136C>G	c.(136-138)Ctt>Gtt	p.L46V		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	46					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTCTAATGCTCTTCGTCCAGT	0.418																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(136-138)Ctt>Gtt		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)	C	VAL/LEU	0,4406		0,0,2203	176.0	165.0	169.0		136	4.9	1.0	4		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRNA9	NM_017581.2	32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	46/480	40337915	1,13005	2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40337915C>G	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.136C>G	4.37:g.40337915C>G	ENSP00000312663:p.Leu46Val						p.L46V	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			2	275	+			46					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.136C>G	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826270	0.32329	0.0	1.16E-4	ENSG00000174343	ENST00000310169	T	0.77489	-1.1	5.76	4.91	0.64330	Neurotransmitter-gated ion-channel ligand-binding (3);	0.125557	0.56097	D	0.000035	T	0.74831	0.3768	N	0.11724	0.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.70026	-0.4985	10	0.02654	T	1	.	16.0733	0.80951	0.135:0.865:0.0:0.0	.	46	Q9UGM1	ACHA9_HUMAN	V	46	ENSP00000312663:L46V	ENSP00000312663:L46V	L	+	1	0	CHRNA9	40032672	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	5.743000	0.68655	1.405000	0.46838	0.467000	0.42956	CTT		0.418	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			19	84	0	0	0	1	0	19	84				
BRIP1	83990	broad.mit.edu	37	17	59926549	59926549	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:59926549C>T	ENST00000259008.2	-	5	715	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	BRIP1_ENST00000577598.1_Missense_Mutation_p.E150K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCATCATTTTCATCTCTGTAT	0.343			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(448-450)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							152.0	148.0	149.0					17																	59926549		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59926549C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.448G>A	17.37:g.59926549C>T	ENSP00000259008:p.Glu150Lys					BRIP1_ENST00000577598.1_Missense_Mutation_p.E150K	p.E150K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			5	715	-			150			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.448G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001726	0.74932	.	.	ENSG00000136492	ENST00000259008	T	0.57107	0.42	5.95	5.95	0.96441	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.210727	0.48286	D	0.000182	T	0.53997	0.1831	M	0.72894	2.215	0.47511	D	0.99944	P	0.42456	0.78	B	0.38106	0.265	T	0.56074	-0.8039	9	.	.	.	-16.8139	17.126	0.86714	0.0:1.0:0.0:0.0	.	150	Q9BX63	FANCJ_HUMAN	K	150	ENSP00000259008:E150K	.	E	-	1	0	BRIP1	57281331	0.998000	0.40836	0.995000	0.50966	0.807000	0.45602	4.576000	0.60915	2.824000	0.97209	0.655000	0.94253	GAA		0.343	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		16	75	0	0	0	1	0	16	75				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	171	0	0	0	1	0	5	171				
SLC3A2	6520	broad.mit.edu	37	11	62652990	62652990	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:62652990C>T	ENST00000377890.2	+	10	1524	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	SLC3A2_ENST00000377892.1_Silent_p.L483L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Silent_p.L421L|SLC3A2_ENST00000377891.2_Silent_p.L453L|SLC3A2_ENST00000338663.7_Silent_p.L351L|SLC3A2_ENST00000377889.2_Silent_p.L390L|SLC3A2_ENST00000536981.1_5'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	452					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTCTCCGACTCTACCAGCTGA	0.577																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(1447-1449)ctC>ctT		solute carrier family 3 (amino acid transporter heavy chain), member 2							234.0	225.0	228.0					11																	62652990		2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62652990C>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1356C>T	11.37:g.62652990C>T						SLC3A2_ENST00000377891.2_Silent_p.L453L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377890.2_Silent_p.L452L|SLC3A2_ENST00000535296.1_Silent_p.L421L|SLC3A2_ENST00000338663.7_Silent_p.L351L|SLC3A2_ENST00000377889.2_Silent_p.L390L	p.L483L			P08195	4F2_HUMAN			11	1673	+			452					Q13543	Silent	SNP	ENST00000377890.2	37	c.1449C>T	CCDS8039.2																																																																																				0.577	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		12	240	0	0	0	1	0	12	240				
SLC6A3	6531	broad.mit.edu	37	5	1443220	1443220	+	Silent	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:1443220G>C	ENST00000270349.9	-	2	220	c.93C>G	c.(91-93)ctC>ctG	p.L31L	SLC6A3_ENST00000453492.2_Silent_p.L31L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	31					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGACAAGGATGAGCTCCACCT	0.642																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(91-93)ctC>ctG		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						76.0	77.0	77.0					5																	1443220		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1443220G>C		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.93C>G	5.37:g.1443220G>C						SLC6A3_ENST00000453492.2_Silent_p.L31L	p.L31L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		2	220	-			31					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.93C>G	CCDS3863.1																																																																																				0.642	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		16	59	0	0	0	1	0	16	59				
SYNE2	23224	broad.mit.edu	37	14	64408433	64408433	+	Silent	SNP	A	A	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:64408433A>C	ENST00000344113.4	+	4	374	c.162A>C	c.(160-162)atA>atC	p.I54I	SYNE2_ENST00000358025.3_Silent_p.I54I|SYNE2_ENST00000341472.5_Silent_p.I54I|SYNE2_ENST00000554584.1_Silent_p.I54I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Silent_p.I54I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	54	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTCAGTTATATCCGACCTAT	0.378																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(160-162)atA>atC		spectrin repeat containing, nuclear envelope 2							121.0	111.0	114.0					14																	64408433		1860	4112	5972	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64408433A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.162A>C	14.37:g.64408433A>C						SYNE2_ENST00000341472.5_Silent_p.I54I|SYNE2_ENST00000356081.3_Silent_p.I54I|SYNE2_ENST00000344113.4_Silent_p.I54I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I54I	p.I54I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	4	392	+			54			Actin-binding.|CH 1.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.162A>C	CCDS41963.1																																																																																				0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		9	62	0	0	0	1	0	9	62				
CFAP45	25790	broad.mit.edu	37	1	159847213	159847213	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:159847213G>A	ENST00000368099.4	-	9	1148	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	CCDC19_ENST00000426543.2_Missense_Mutation_p.R277W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCTCCCTCCGGATTCTCTCC	0.552																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(829-831)Cgg>Tgg		coiled-coil domain containing 19							249.0	207.0	221.0					1																	159847213		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159847213G>A																												ENST00000368099.4:c.1084C>T	1.37:g.159847213G>A	ENSP00000357079:p.Arg362Trp					CCDC19_ENST00000368099.4_Missense_Mutation_p.R362W|CCDC19_ENST00000476696.1_5'UTR	p.R277W			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		9	1284	-	all_hematologic(112;0.0597)		362						Missense_Mutation	SNP	ENST00000368099.4	37	c.829C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	g	18.97	3.736297	0.69189	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11385	2.78;2.78	4.57	2.63	0.31362	.	0.194639	0.42420	D	0.000711	T	0.13628	0.0330	L	0.60455	1.87	0.29228	N	0.873489	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.02617	-1.1133	9	.	.	.	-29.0192	10.5747	0.45221	0.0:0.0:0.4889:0.5111	.	362;362	A8K884;Q9UL16	.;CCD19_HUMAN	W	362;277	ENSP00000357079:R362W;ENSP00000403044:R277W	.	R	-	1	2	CCDC19	158113837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.159000	0.50731	0.614000	0.30107	0.586000	0.80456	CGG		0.552	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			51	125	0	0	0	1	0	51	125				
TENM1	10178	broad.mit.edu	37	X	123518199	123518199	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chrX:123518199C>G	ENST00000371130.3	-	29	6624	c.6561G>C	c.(6559-6561)aaG>aaC	p.K2187N	TENM1_ENST00000422452.2_Missense_Mutation_p.K2194N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2187					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GACGAGCACTCTTCCCATGGC	0.443																																						ENST00000422452.2																			0											c.(6580-6582)aaG>aaC		teneurin transmembrane protein 1							143.0	131.0	135.0					X																	123518199		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518199C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6561G>C	X.37:g.123518199C>G	ENSP00000360171:p.Lys2187Asn					TENM1_ENST00000371130.3_Missense_Mutation_p.K2187N|STAG2_ENST00000469481.1_Intron	p.K2194N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6645	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6582G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.092638	0.00034	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.93	5.52	0.587	0.17439	.	0.104286	0.64402	N	0.000004	T	0.42832	0.1220	N	0.00097	-2.15	0.18873	N	0.999984	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.56860	-0.7909	10	0.02654	T	1	.	6.9547	0.24563	0.3966:0.1399:0.4635:0.0	.	2193;2194;2187	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2187;2194	ENSP00000360171:K2187N;ENSP00000403954:K2194N	ENSP00000360171:K2187N	K	-	3	2	ODZ1	123345880	0.998000	0.40836	0.993000	0.49108	0.934000	0.57294	0.526000	0.22971	-0.272000	0.09259	-0.394000	0.06481	AAG		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	72	0	0	0	1	0	4	72				
SEC16B	89866	broad.mit.edu	37	1	177913762	177913762	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:177913762C>G	ENST00000308284.6	-	15	1904	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	605					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCCGTCCTCTGGATTGCCT	0.473																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1813-1815)caG>caC		SEC16 homolog B (S. cerevisiae)							145.0	149.0	148.0					1																	177913762		1902	4125	6027	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913762C>G	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1815G>C	1.37:g.177913762C>G	ENSP00000308339:p.Gln605His					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.Q605H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			15	1904	-			605					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1815G>C	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352682	0.61293	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.17691	2.26	5.08	3.95	0.45737	.	0.102883	0.43416	D	0.000576	T	0.31071	0.0785	L	0.41124	1.26	0.80722	D	1	P;D;P;D	0.89917	0.771;1.0;0.771;1.0	P;D;P;D	0.83275	0.667;0.996;0.753;0.99	T	0.01626	-1.1309	10	0.46703	T	0.11	-12.4392	13.3455	0.60571	0.0:0.9056:0.0:0.0944	.	160;606;605;302	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	H	605;289;320	ENSP00000308339:Q605H	ENSP00000239472:Q320H	Q	-	3	2	AL359075.1	176180385	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.734000	0.38166	2.345000	0.79718	0.462000	0.41574	CAG		0.473	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		19	110	0	0	0	1	0	19	110				
ACP2	53	broad.mit.edu	37	11	47261760	47261760	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:47261760G>A	ENST00000256997.3	-	11	1295	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ACP2_ENST00000533929.1_Silent_p.F365F|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000537863.1_Silent_p.F206F|ACP2_ENST00000529444.1_Silent_p.F330F|ACP2_ENST00000527256.1_Silent_p.F361F	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	393					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CTATGAGGAGGAAGAGGATGG	0.597																																					Melanoma(90;262 1440 11488 44828 48531)	ENST00000256997.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(1177-1179)ttC>ttT		acid phosphatase 2, lysosomal							121.0	83.0	96.0					11																	47261760		2201	4298	6499	SO:0001819	synonymous_variant	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47261760G>A	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.1179C>T	11.37:g.47261760G>A						ACP2_ENST00000527256.1_Silent_p.F361F|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000537863.1_Silent_p.F206F|ACP2_ENST00000533929.1_Silent_p.F365F|ACP2_ENST00000529444.1_Silent_p.F330F	p.F393F	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN			11	1295	-			393					E9PCI1|Q561W5|Q9BTU7	Silent	SNP	ENST00000256997.3	37	c.1179C>T	CCDS7928.1																																																																																				0.597	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		6	38	0	0	0	1	0	6	38				
C10orf55	414236	broad.mit.edu	37	10	75676154	75676154	+	Intron	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:75676154C>T	ENST00000409178.1	-	2	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.S359L|PLAU_ENST00000372762.4_Missense_Mutation_p.S340L|PLAU_ENST00000372764.3_Missense_Mutation_p.S376L	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CAGGGAGACTCAGGGGGACCC	0.557																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(1075-1077)tCa>tTa		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						42.0	39.0	40.0					10																	75676154		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75676154C>T		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+122G>A	10.37:g.75676154C>T						C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.S376L|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.S340L	p.S359L	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			10	1558	+	Prostate(51;0.0112)		376			Peptidase S1.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.1076C>T	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099810	0.76983	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.96774	-4.12;-4.12;-4.12	5.48	5.48	0.80851	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99655	1.0992	10	0.87932	D	0	.	16.8332	0.85950	0.0:1.0:0.0:0.0	.	359;340;376;376	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	L	359;376;340;340	ENSP00000388474:S359L;ENSP00000361850:S376L;ENSP00000361848:S340L	ENSP00000361847:S340L	S	+	2	0	PLAU	75346160	1.000000	0.71417	0.979000	0.43373	0.390000	0.30446	6.359000	0.73060	2.580000	0.87095	0.555000	0.69702	TCA		0.557	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		6	10	0	0	0	1	0	6	10				
C17orf80	55028	broad.mit.edu	37	17	71232843	71232843	+	Missense_Mutation	SNP	G	G	A	rs377002043		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:71232843G>A	ENST00000535032.2	+	2	1335	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.E408K|C17orf80_ENST00000359042.2_Missense_Mutation_p.E408K|C17orf80_ENST00000268942.8_Missense_Mutation_p.E408K|FAM104A_ENST00000583178.1_5'UTR|C17orf80_ENST00000426147.2_Missense_Mutation_p.E408K|C17orf80_ENST00000255557.4_Missense_Mutation_p.E408K			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	408						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GGAGAGTCCCGAGGGACAGTT	0.473																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1222-1224)Gag>Aag		chromosome 17 open reading frame 80		G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	63.0	59.0	60.0		1222,1222,1222	-4.2	0.0	17		60	0,8600		0,0,4300	no	missense,missense,missense	C17orf80	NM_001100621.1,NM_001100622.1,NM_017941.4	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	408/574,408/584,408/610	71232843	1,13005	2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232843G>A	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1222G>A	17.37:g.71232843G>A	ENSP00000440551:p.Glu408Lys					C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.E408K|C17orf80_ENST00000535032.2_Missense_Mutation_p.E408K|C17orf80_ENST00000268942.8_Missense_Mutation_p.E408K|C17orf80_ENST00000577615.1_Missense_Mutation_p.E408K|C17orf80_ENST00000255557.4_Missense_Mutation_p.E408K|FAM104A_ENST00000583178.1_5'UTR	p.E408K	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1416	+			408					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.1222G>A	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	G	3.627	-0.076399	0.07184	2.27E-4	0.0	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.13420	2.59;2.75;2.59;2.78;2.75	3.91	-4.17	0.03857	.	3.360580	0.00604	N	0.000395	T	0.10809	0.0264	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.13594	0.0;0.008;0.0;0.008	B;B;B;B	0.08055	0.001;0.003;0.001;0.003	T	0.22591	-1.0212	10	0.24483	T	0.36	1.4855	5.4412	0.16509	0.6437:0.1359:0.2204:0.0	.	408;408;408;408	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	K	408	ENSP00000255557:E408K;ENSP00000351937:E408K;ENSP00000268942:E408K;ENSP00000396970:E408K;ENSP00000440551:E408K	ENSP00000255557:E408K	E	+	1	0	C17orf80	68744438	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.957000	0.01521	-1.094000	0.03054	-0.367000	0.07326	GAG		0.473	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		12	54	0	0	0	1	0	12	54				
SIX4	51804	broad.mit.edu	37	14	61190019	61190019	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:61190019C>G	ENST00000216513.4	-	1	833	c.774G>C	c.(772-774)aaG>aaC	p.K258N		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	258					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGCCGGTGATCTTGGCCAGGT	0.607																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(772-774)aaG>aaC		SIX homeobox 4							46.0	44.0	45.0					14																	61190019		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61190019C>G	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.774G>C	14.37:g.61190019C>G	ENSP00000216513:p.Lys258Asn						p.K258N	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	833	-			258					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.774G>C	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806458	0.50421	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.96334	-3.98	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.314716	0.37761	N	0.001942	D	0.93844	0.8031	L	0.45228	1.405	0.80722	D	1	B;B	0.24768	0.111;0.057	B;B	0.27262	0.078;0.069	D	0.92746	0.6212	10	0.52906	T	0.07	.	15.0803	0.72108	0.0:1.0:0.0:0.0	.	250;258	G3V2N2;Q9UIU6	.;SIX4_HUMAN	N	258;250	ENSP00000216513:K258N	ENSP00000216513:K258N	K	-	3	2	SIX4	60259772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.591000	0.61019	1.849000	0.53698	0.650000	0.86243	AAG		0.607	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			5	27	0	0	0	1	0	5	27				
CNKSR1	10256	broad.mit.edu	37	1	26514792	26514792	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:26514792G>A	ENST00000374253.5	+	17	1582	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	CNKSR1_ENST00000531191.1_Missense_Mutation_p.E250K|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E508K	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	515					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCCCGAGAGGAAGGTAG	0.602																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(748-750)Gag>Aag		connector enhancer of kinase suppressor of Ras 1							53.0	56.0	55.0					1																	26514792		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26514792G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1543G>A	1.37:g.26514792G>A	ENSP00000363371:p.Glu515Lys					CNKSR1_ENST00000374253.5_Missense_Mutation_p.E515K|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E508K	p.E250K			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	16	1755	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	515			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	G	16.86	3.238054	0.58886	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.17370	2.32;2.33;2.28	5.82	5.82	0.92795	.	.	.	.	.	T	0.23370	0.0565	M	0.71581	2.175	0.47276	D	0.999374	B;B	0.25390	0.125;0.125	B;B	0.22152	0.038;0.038	T	0.01496	-1.1340	9	0.62326	D	0.03	-26.8453	14.7264	0.69346	0.0:0.144:0.856:0.0	.	515;508	Q969H4;Q53GM7	CNKR1_HUMAN;.	K	508;515;250	ENSP00000354609:E508K;ENSP00000363371:E515K;ENSP00000431817:E250K	ENSP00000354609:E508K	E	+	1	0	CNKSR1	26387379	0.997000	0.39634	0.998000	0.56505	0.495000	0.33615	3.008000	0.49544	2.757000	0.94681	0.655000	0.94253	GAG		0.602	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	43	0	0	0	1	0	7	43				
OR10G4	390264	broad.mit.edu	37	11	123886995	123886995	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:123886995G>A	ENST00000320891.4	+	1	714	c.714G>A	c.(712-714)caG>caA	p.Q238Q		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		GAGCCTTTCAGACCTGTGCCT	0.542																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(712-714)caG>caA		olfactory receptor, family 10, subfamily G, member 4							174.0	140.0	152.0					11																	123886995		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886995G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.714G>A	11.37:g.123886995G>A							p.Q238Q	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	714	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	238					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.714G>A	CCDS31702.1																																																																																				0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		7	55	0	0	0	1	0	7	55				
SUPT6H	6830	broad.mit.edu	37	17	27001327	27001327	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:27001327G>C	ENST00000314616.6	+	3	419	c.136G>C	c.(136-138)Gat>Cat	p.D46H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D46H|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	46	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGAGAACCTAGATGATCAGGA	0.468																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(136-138)Gat>Cat		suppressor of Ty 6 homolog (S. cerevisiae)							136.0	105.0	116.0					17																	27001327		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001327G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.136G>C	17.37:g.27001327G>C	ENSP00000319104:p.Asp46His					SUPT6H_ENST00000347486.4_Missense_Mutation_p.D46H	p.D46H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			3	419	+	Lung NSC(42;0.00431)		46			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.136G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430727	0.43122	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.92	5.92	0.95590	.	0.054486	0.64402	D	0.000001	T	0.38825	0.1055	N	0.08118	0	0.58432	D	0.999999	P	0.41041	0.736	B	0.38803	0.282	T	0.47182	-0.9137	9	0.72032	D	0.01	-23.0602	20.3214	0.98679	0.0:0.0:1.0:0.0	.	46	Q7KZ85	SPT6H_HUMAN	H	46	.	ENSP00000319104:D46H	D	+	1	0	SUPT6H	24025454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.804000	0.96469	0.655000	0.94253	GAT		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	36	0	0	0	1	0	7	36				
TFRC	7037	broad.mit.edu	37	3	195799003	195799003	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:195799003T>C	ENST00000360110.4	-	5	624	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	TFRC_ENST00000535031.1_De_novo_Start_OutOfFrame|TFRC_ENST00000392396.3_Missense_Mutation_p.Y152C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.Y71C|RNU7-18P_ENST00000516365.1_RNA	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	152					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ACGAGGGACATATGAATTTTC	0.328			T	BCL6	NHL																																	ENST00000535031.1				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27								transferrin receptor							69.0	69.0	69.0					3																	195799003		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195799003T>C	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.455A>G	3.37:g.195799003T>C	ENSP00000353224:p.Tyr152Cys					TFRC_ENST00000420415.1_Missense_Mutation_p.Y71C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000360110.4_Missense_Mutation_p.Y152C|TFRC_ENST00000392396.3_Missense_Mutation_p.Y152C				P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	0	128	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)							D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Translation_Start_Site	SNP	ENST00000360110.4	37		CCDS3312.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.394751	0.42512	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.34275	1.37;1.37;1.37	5.68	4.51	0.55191	.	0.769510	0.12813	N	0.437024	T	0.61640	0.2363	M	0.85099	2.735	0.32248	N	0.571803	D	0.89917	1.0	D	0.68192	0.956	T	0.67142	-0.5745	10	0.48119	T	0.1	-14.1145	10.6344	0.45556	0.1438:0.0:0.0:0.8562	.	152	P02786	TFR1_HUMAN	C	152;71;152	ENSP00000353224:Y152C;ENSP00000390133:Y71C;ENSP00000376197:Y152C	ENSP00000353224:Y152C	Y	-	2	0	TFRC	197283400	0.079000	0.21365	0.007000	0.13788	0.652000	0.38707	0.754000	0.26390	1.062000	0.40625	0.482000	0.46254	TAT		0.328	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			11	84	0	0	0	1	0	11	84				
TPH1	7166	broad.mit.edu	37	11	18045526	18045526	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:18045526T>A	ENST00000250018.2	-	8	1497	c.935A>T	c.(934-936)tAc>tTc	p.Y312F	TPH1_ENST00000525406.1_5'Flank|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.Y312F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	312					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AGTGAAAAAGTAGCACTGCAA	0.353																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(934-936)tAc>tTc		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						110.0	104.0	106.0					11																	18045526		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18045526T>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.935A>T	11.37:g.18045526T>A	ENSP00000250018:p.Tyr312Phe					TPH1_ENST00000341556.2_Missense_Mutation_p.Y312F	p.Y312F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			8	1497	-			312					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.935A>T	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762346	0.89932	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99735	-6.58;-6.58	5.92	5.92	0.95590	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.79805	2.47	0.80722	D	1	P	0.44309	0.832	P	0.57283	0.817	D	0.97915	1.0311	10	0.49607	T	0.09	-7.1708	16.3544	0.83230	0.0:0.0:0.0:1.0	.	312	P17752	TPH1_HUMAN	F	312	ENSP00000250018:Y312F;ENSP00000343550:Y312F	ENSP00000250018:Y312F	Y	-	2	0	TPH1	18002102	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.994000	0.88315	2.265000	0.75225	0.459000	0.35465	TAC		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		8	68	0	0	0	1	0	8	68				
NOS2	4843	broad.mit.edu	37	17	26096140	26096140	+	Missense_Mutation	SNP	G	G	A	rs200750597		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:26096140G>A	ENST00000313735.6	-	17	2130	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	633	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCGCAGAACCGAGGGTACATG	0.607																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(1897-1899)Cgg>Tgg		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						43.0	42.0	42.0					17																	26096140		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26096140G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1897C>T	17.37:g.26096140G>A	ENSP00000327251:p.Arg633Trp						p.R633W	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			17	2130	-			633			Flavodoxin-like.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1897C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513619	0.85389	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.60040	0.22	5.26	5.26	0.73747	Flavodoxin/nitric oxide synthase (2);	0.212758	0.40302	N	0.001129	T	0.66992	0.2846	M	0.66439	2.03	0.39855	D	0.97329	D;D	0.61697	0.99;0.98	P;P	0.53185	0.711;0.72	T	0.73135	-0.4078	10	0.87932	D	0	.	14.2922	0.66286	0.0:0.1604:0.8396:0.0	.	598;633	F8WEM3;P35228	.;NOS2_HUMAN	W	633;594;598	ENSP00000327251:R633W	ENSP00000305638:R598W	R	-	1	2	NOS2	23120267	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.232000	0.72313	2.454000	0.82982	0.462000	0.41574	CGG		0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		10	17	0	0	0	1	0	10	17				
FAM115A	9747	broad.mit.edu	37	7	143573255	143573255	+	Silent	SNP	G	G	A	rs371535446		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:143573255G>A	ENST00000479870.1	-	2	655	c.447C>T	c.(445-447)ctC>ctT	p.L149L	FAM115A_ENST00000355951.2_Silent_p.L149L|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	149										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GTCCTCCTATGAGCAAGCCGC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19096	0.001		0.0	False		,,,				2504	0.0					ENST00000479870.1																			0				NS(1)|endometrium(1)|lung(5)	7						c.(445-447)ctC>ctT		family with sequence similarity 115, member A							65.0	63.0	64.0					7																	143573255		2203	4300	6503	SO:0001819	synonymous_variant	9747							g.chr7:143573255G>A	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.447C>T	7.37:g.143573255G>A						FAM115A_ENST00000355951.2_Silent_p.L149L|FAM115A_ENST00000392900.3_Intron	p.L149L	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN			2	655	-	Melanoma(164;0.0903)		149					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Silent	SNP	ENST00000479870.1	37	c.447C>T	CCDS5886.1																																																																																				0.512	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		22	33	0	0	0	1	0	22	33				
KRTAP4-6	81871	broad.mit.edu	37	17	39296674	39296674	+	Silent	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:39296674G>A	ENST00000345847.4	-	1	65	c.66C>T	c.(64-66)cgC>cgT	p.R22R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	22	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCAGCTGGGGCGGCAGCAGG	0.632																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(64-66)cgC>cgT		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296674G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.66C>T	17.37:g.39296674G>A							p.R22R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	65	-			22			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.66C>T	CCDS54125.1																																																																																				0.632	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	95	0	0	0	1	0	5	95				
MIR124-2HG	100130155	broad.mit.edu	37	8	65291894	65291894	+	lincRNA	SNP	C	C	T	rs572575008		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:65291894C>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							GAACCCATCTCTTGCCGCATA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17408	0.0		0.001	False		,,,				2504	0.0					ENST00000521441.1																			0																																																			100130155							g.chr8:65291894C>T																													8.37:g.65291894C>T														0	655	+									RNA	SNP	ENST00000521441.1	37																																																																																						0.517	LINC00966-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378434.1			4	18	0	0	0	1	0	4	18				
SKIL	6498	broad.mit.edu	37	3	170078459	170078459	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:170078459G>C	ENST00000458537.3	+	1	1049	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	SKIL_ENST00000426052.2_Missense_Mutation_p.E94Q|SKIL_ENST00000259119.4_Missense_Mutation_p.E114Q|SKIL_ENST00000413427.2_Missense_Mutation_p.E114Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	114					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCATTCCCAAGAAAGCATGTC	0.483																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(340-342)Gaa>Caa		SKI-like oncogene							173.0	179.0	177.0					3																	170078459		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078459G>C	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.340G>C	3.37:g.170078459G>C	ENSP00000415243:p.Glu114Gln					SKIL_ENST00000426052.2_Missense_Mutation_p.E94Q|SKIL_ENST00000413427.2_Missense_Mutation_p.E114Q|SKIL_ENST00000259119.4_Missense_Mutation_p.E114Q	p.E114Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1049	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		114					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.340G>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312865	0.60414	.	.	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D;D	0.92099	-2.81;-2.97;-2.96;-2.93;-2.97	5.88	5.88	0.94601	.	0.046500	0.85682	D	0.000000	D	0.95959	0.8684	M	0.70275	2.135	0.48087	D	0.999585	D;D	0.89917	0.998;1.0	D;D	0.87578	0.957;0.998	D	0.95205	0.8320	10	0.52906	T	0.07	-10.2384	20.2941	0.98545	0.0:0.0:1.0:0.0	.	114;114	P12757-3;P12757	.;SKIL_HUMAN	Q	114;114;94;114;114	ENSP00000417670:E114Q;ENSP00000259119:E114Q;ENSP00000406520:E94Q;ENSP00000400193:E114Q;ENSP00000415243:E114Q	ENSP00000259119:E114Q	E	+	1	0	SKIL	171561153	1.000000	0.71417	0.996000	0.52242	0.121000	0.20230	7.487000	0.81328	2.809000	0.96659	0.579000	0.79373	GAA		0.483	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	259	0	0	0	1	0	4	259				
CDH6	1004	broad.mit.edu	37	5	31294357	31294357	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:31294357G>A	ENST00000265071.2	+	3	782	c.517G>A	c.(517-519)Gat>Aat	p.D173N	CDH6_ENST00000514738.1_Missense_Mutation_p.D118N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGAAATGTCTGATGTCGGTGA	0.473																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(517-519)Gat>Aat		cadherin 6, type 2, K-cadherin (fetal kidney)							119.0	116.0	117.0					5																	31294357		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31294357G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.517G>A	5.37:g.31294357G>A	ENSP00000265071:p.Asp173Asn					CDH6_ENST00000514738.1_Missense_Mutation_p.D118N	p.D173N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			3	782	+			173			Cadherin 2.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.517G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829922	0.50845	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.50813	0.73;0.73	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.044855	0.85682	D	0.000000	T	0.36635	0.0974	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.22346	0.005;0.068	B;B	0.22386	0.012;0.039	T	0.12319	-1.0552	10	0.17369	T	0.5	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	173;173	P55285;P55285-2	CADH6_HUMAN;.	N	118;173	ENSP00000424843:D118N;ENSP00000265071:D173N	ENSP00000265071:D173N	D	+	1	0	CDH6	31330114	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	3.948000	0.56660	2.885000	0.99019	0.655000	0.94253	GAT		0.473	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		23	160	0	0	0	1	0	23	160				
CDCA7L	55536	broad.mit.edu	37	7	21956485	21956485	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr7:21956485T>G	ENST00000406877.3	-	2	331	c.52A>C	c.(52-54)Aac>Cac	p.N18H	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.N18H|CDCA7L_ENST00000356195.5_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	18					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGGGGGCGTTAAAGATGTCA	0.463																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(52-54)Aac>Cac		cell division cycle associated 7-like							170.0	171.0	170.0					7																	21956485		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21956485T>G		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.52A>C	7.37:g.21956485T>G	ENSP00000383986:p.Asn18His					CDCA7L_ENST00000373934.4_Missense_Mutation_p.N18H|CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR	p.N18H	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			2	331	-			18					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.52A>C	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085848	0.55861	.	.	ENSG00000164649	ENST00000406877;ENST00000373934	T;T	0.49139	0.79;0.83	5.49	5.49	0.81192	.	0.280166	0.30911	N	0.008636	T	0.53916	0.1826	L	0.38175	1.15	0.28796	N	0.899068	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	P;P;P;D	0.65874	0.87;0.87;0.87;0.939	T	0.48479	-0.9032	10	0.13853	T	0.58	-2.3259	14.1668	0.65483	0.0:0.0:0.0:1.0	.	18;18;18;18	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	H	18	ENSP00000383986:N18H;ENSP00000363045:N18H	ENSP00000363045:N18H	N	-	1	0	CDCA7L	21923010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.913000	0.48790	2.089000	0.63090	0.454000	0.30748	AAC		0.463	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		16	135	0	0	0	1	0	16	135				
ZHX1	11244	broad.mit.edu	37	8	124268174	124268174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr8:124268174G>A	ENST00000522655.1	-	3	553	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ZHX1_ENST00000395571.3_Nonsense_Mutation_p.R5*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.R5*|ZHX1_ENST00000522595.1_5'UTR			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	5					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTGATTTTCGCCTGCTTGCC	0.423																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(13-15)Cga>Tga		zinc fingers and homeoboxes 1							138.0	126.0	130.0					8																	124268174		2203	4300	6503	SO:0001587	stop_gained	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124268174G>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.13C>T	8.37:g.124268174G>A	ENSP00000428821:p.Arg5*					ZHX1_ENST00000522655.1_Nonsense_Mutation_p.R5*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.R5*	p.R5*	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	630	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		5					Q8IWD8	Nonsense_Mutation	SNP	ENST00000522655.1	37	c.13C>T	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	G	37	6.009289	0.97200	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	.	.	.	6.17	1.74	0.24563	.	0.245199	0.30999	N	0.008452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.713	16.9609	0.86272	0.0:0.0:0.5576:0.4424	.	.	.	.	X	5	.	ENSP00000297857:R5X	R	-	1	2	ZHX1	124337355	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	0.889000	0.28282	0.412000	0.25729	0.655000	0.94253	CGA		0.423	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			17	140	0	0	0	1	0	17	140				
ATAD5	79915	broad.mit.edu	37	17	29221896	29221896	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:29221896G>C	ENST00000321990.4	+	23	5878	c.5500G>C	c.(5500-5502)Gag>Cag	p.E1834Q	TEFM_ENST00000579183.1_5'Flank	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1834					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CATTCCAAAAGAGACTGTGAA	0.284																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(5500-5502)Gag>Cag		ATPase family, AAA domain containing 5							88.0	89.0	89.0					17																	29221896		2202	4296	6498	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29221896G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5500G>C	17.37:g.29221896G>C	ENSP00000313171:p.Glu1834Gln						p.E1834Q	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			23	5878	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1834					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5500G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	9.614	1.131926	0.21041	.	.	ENSG00000176208	ENST00000321990	T	0.08458	3.09	5.34	4.37	0.52481	.	0.481174	0.25607	N	0.029513	T	0.07818	0.0196	L	0.41236	1.265	0.25751	N	0.985056	B	0.19706	0.038	B	0.16289	0.015	T	0.26189	-1.0110	10	0.27082	T	0.32	.	10.8659	0.46856	0.0744:0.1392:0.7864:0.0	.	1834	Q96QE3	ATAD5_HUMAN	Q	1834	ENSP00000313171:E1834Q	ENSP00000313171:E1834Q	E	+	1	0	ATAD5	26246022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.327000	0.43858	1.247000	0.43917	0.585000	0.79938	GAG		0.284	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		9	43	0	0	0	1	0	9	43				
ZNF432	9668	broad.mit.edu	37	19	52537040	52537040	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:52537040C>G	ENST00000594154.1	-	5	2104	c.1892G>C	c.(1891-1893)aGa>aCa	p.R631T	ZNF432_ENST00000221315.5_Missense_Mutation_p.R631T			O94892	ZN432_HUMAN	zinc finger protein 432	631					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GAAGGCTTTTCTACATTCACT	0.413																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1891-1893)aGa>aCa		zinc finger protein 432							150.0	141.0	144.0					19																	52537040		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537040C>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1892G>C	19.37:g.52537040C>G	ENSP00000470488:p.Arg631Thr					ZNF432_ENST00000221315.5_Missense_Mutation_p.R631T	p.R631T			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	2104	-		all_neural(266;0.117)	631						Missense_Mutation	SNP	ENST00000594154.1	37	c.1892G>C	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668566	0.47677	.	.	ENSG00000256087	ENST00000221315	T	0.14640	2.49	2.96	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	N	0.19112	0.55	0.28760	N	0.900959	B	0.26483	0.15	B	0.27380	0.079	T	0.16897	-1.0387	9	0.87932	D	0	.	13.1266	0.59358	0.0:1.0:0.0:0.0	.	631	O94892	ZN432_HUMAN	T	631	ENSP00000221315:R631T	ENSP00000221315:R631T	R	-	2	0	ZNF432	57228852	0.850000	0.29656	0.992000	0.48379	0.945000	0.59286	1.682000	0.37628	1.664000	0.50801	0.655000	0.94253	AGA		0.413	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		26	104	0	0	0	1	0	26	104				
SF3B1	23451	broad.mit.edu	37	2	198274541	198274541	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:198274541G>C	ENST00000335508.6	-	7	948	c.857C>G	c.(856-858)tCc>tGc	p.S286C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	286	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACGAGCACTGGAAGTTGCGCC	0.517			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(856-858)tCc>tGc		splicing factor 3b, subunit 1, 155kDa							266.0	275.0	272.0					2																	198274541		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198274541G>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.857C>G	2.37:g.198274541G>C	ENSP00000335321:p.Ser286Cys						p.S286C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	948	-			286			Interaction with PPP1R8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.857C>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120696	0.77436	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.46	4.59	0.56863	Splicing factor 3B subunit 1 (1);	0.122936	0.53938	D	0.000042	T	0.65770	0.2723	L	0.34521	1.04	0.80722	D	1	B	0.30482	0.281	P	0.47981	0.563	T	0.68303	-0.5444	9	0.62326	D	0.03	.	14.2901	0.66270	0.0715:0.0:0.9285:0.0	.	286	O75533	SF3B1_HUMAN	C	286	.	ENSP00000335321:S286C	S	-	2	0	SF3B1	197982786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	1.311000	0.45024	0.655000	0.94253	TCC		0.517	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			43	261	0	0	0	1	0	43	261				
SYT10	341359	broad.mit.edu	37	12	33532820	33532820	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:33532820C>T	ENST00000228567.3	-	6	1743	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	SYT10_ENST00000535526.1_Missense_Mutation_p.E302K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	483					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCCAGCATTTCATTCCAGTGG	0.463																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1447-1449)Gaa>Aaa		synaptotagmin X							251.0	208.0	223.0					12																	33532820		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33532820C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1447G>A	12.37:g.33532820C>T	ENSP00000228567:p.Glu483Lys					SYT10_ENST00000535526.1_Missense_Mutation_p.E302K	p.E483K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			6	1743	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		483					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1447G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613121	0.87258	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.72051	-0.62;-0.62	4.3	4.3	0.51218	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42548	U	0.000695	T	0.75982	0.3924	M	0.88979	2.995	0.80722	D	1	P	0.40376	0.715	B	0.37943	0.261	T	0.83117	-0.0120	10	0.72032	D	0.01	.	17.0422	0.86492	0.0:1.0:0.0:0.0	.	483	Q6XYQ8	SYT10_HUMAN	K	483;302	ENSP00000228567:E483K;ENSP00000438691:E302K	ENSP00000228567:E483K	E	-	1	0	SYT10	33424087	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	7.329000	0.79170	2.679000	0.91253	0.650000	0.86243	GAA		0.463	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		10	78	0	0	0	1	0	10	78				
CATSPERD	257062	broad.mit.edu	37	19	5768242	5768242	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:5768242C>A	ENST00000381624.3	+	18	1684	c.1623C>A	c.(1621-1623)ttC>ttA	p.F541L	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.F199L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	541					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ATTACAGCTTCATCATCGAGA	0.498																																						ENST00000381624.3																			0											c.(1621-1623)ttC>ttA		catsper channel auxiliary subunit delta							80.0	77.0	78.0					19																	5768242		2072	4191	6263	SO:0001583	missense	257062					integral to membrane		g.chr19:5768242C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1623C>A	19.37:g.5768242C>A	ENSP00000371037:p.Phe541Leu					CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.F199L	p.F541L	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			18	1684	+			541					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1623C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080163	0.36662	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.25579	1.79;1.79	3.44	1.31	0.21738	.	0.347842	0.20844	N	0.084660	T	0.16085	0.0387	L	0.36672	1.1	0.09310	N	1	B;P	0.38370	0.367;0.628	B;B	0.35039	0.104;0.194	T	0.12268	-1.0554	10	0.62326	D	0.03	-24.9448	5.6358	0.17536	0.0:0.7481:0.0:0.2519	.	467;541	B7WNK5;Q86XM0	.;TM146_HUMAN	L	467;541;199;212;210	ENSP00000371037:F541L;ENSP00000371027:F199L	ENSP00000310546:F212L	F	+	3	2	TMEM146	5719242	0.119000	0.22226	0.031000	0.17742	0.040000	0.13550	0.086000	0.14935	0.463000	0.27118	0.549000	0.68633	TTC		0.498	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		17	87	1	0	2.35188e-11	1	2.58759e-11	17	87				
TNIP3	79931	broad.mit.edu	37	4	122079850	122079850	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr4:122079850C>T	ENST00000509841.1	-	6	514	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	TNIP3_ENST00000057513.3_Missense_Mutation_p.E69K|TNIP3_ENST00000454328.1_Missense_Mutation_p.E69K|TNIP3_ENST00000507879.1_Missense_Mutation_p.E139K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACCTTTCTTTCATATAACTCT	0.363																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(205-207)Gaa>Aaa		TNFAIP3 interacting protein 3							86.0	86.0	86.0					4																	122079850		2201	4300	6501	SO:0001583	missense	79931							g.chr4:122079850C>T	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.436G>A	4.37:g.122079850C>T	ENSP00000426613:p.Glu146Lys					TNIP3_ENST00000507879.1_Missense_Mutation_p.E139K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E69K|TNIP3_ENST00000509841.1_Missense_Mutation_p.E146K	p.E69K			Q96KP6	TNIP3_HUMAN			5	432	-			69						Missense_Mutation	SNP	ENST00000509841.1	37	c.205G>A	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595998	0.46318	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.59772	0.24;0.24;0.3;0.3	5.18	3.45	0.39498	.	0.332587	0.29009	N	0.013432	T	0.67249	0.2873	L	0.55103	1.725	0.30254	N	0.793845	D;B;B	0.63046	0.992;0.084;0.082	D;B;B	0.74674	0.984;0.022;0.039	T	0.65421	-0.6172	10	0.62326	D	0.03	-12.604	8.468	0.32969	0.0:0.8162:0.0:0.1838	.	139;69;69	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	K	69;69;139;146	ENSP00000057513:E69K;ENSP00000411817:E69K;ENSP00000427106:E139K;ENSP00000426613:E146K	ENSP00000057513:E69K	E	-	1	0	TNIP3	122299300	1.000000	0.71417	0.947000	0.38551	0.750000	0.42670	1.094000	0.30951	0.847000	0.35167	0.655000	0.94253	GAA		0.363	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		12	47	0	0	0	1	0	12	47				
DHRS12	79758	broad.mit.edu	37	13	52343425	52343425	+	Silent	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr13:52343425C>T	ENST00000444610.2	-	9	724	c.711G>A	c.(709-711)gtG>gtA	p.V237V	DHRS12_ENST00000490949.1_5'Flank|DHRS12_ENST00000218981.1_Silent_p.V188V	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	237							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCGCCTGCCTCACACCTGGGA	0.572																																						ENST00000218981.1																			0				cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7						c.(562-564)gtG>gtA		dehydrogenase/reductase (SDR family) member 12							10.0	12.0	11.0					13																	52343425		2185	4278	6463	SO:0001819	synonymous_variant	79758						binding|oxidoreductase activity	g.chr13:52343425C>T	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.711G>A	13.37:g.52343425C>T						DHRS12_ENST00000444610.2_Silent_p.V237V	p.V188V	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	8	675	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	237					Q96GB2|Q9H8H1	Silent	SNP	ENST00000444610.2	37	c.564G>A	CCDS58292.1																																																																																				0.572	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		4	6	0	0	0	1	0	4	6				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116732	121116732	+	lincRNA	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:121116732C>T	ENST00000437515.1	-	0	329					NR_104189.1																						CATCAAAGCCCAGAATGAGTA	0.428																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121116732C>T																													1.37:g.121116732C>T														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.428	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			4	36	0	0	0	1	0	4	36				
KIAA0226	9711	broad.mit.edu	37	3	197423875	197423875	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:197423875G>C	ENST00000296343.5	-	8	1306	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C	KIAA0226_ENST00000273582.5_Missense_Mutation_p.S391C|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S436C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	436	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTTTGACCAGAGTAGGGCAA	0.463																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1171-1173)tCt>tGt		KIAA0226							117.0	120.0	119.0					3																	197423875		2015	4164	6179	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197423875G>C	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1307C>G	3.37:g.197423875G>C	ENSP00000296343:p.Ser436Cys					KIAA0226_ENST00000296343.5_Missense_Mutation_p.S436C|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S436C	p.S391C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	9	1717	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		436			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1172C>G	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.156664|4.156664	0.78114|0.78114	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	5.63|5.63	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.64402	.|U	.|0.000013	T|T	0.67571|0.67571	0.2907|0.2907	L|L	0.43152|0.43152	1.355|1.355	0.36967|0.36967	D|D	0.893614|0.893614	.|D;D;D;D	.|0.89917	.|1.0;0.997;0.997;0.994	.|D;P;P;P	.|0.76575	.|0.988;0.847;0.847;0.707	T|T	0.73366|0.73366	-0.4005|-0.4005	5|9	.|0.52906	.|T	.|0.07	.|.	12.7348|12.7348	0.57216|0.57216	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	.|284;436;391;436	.|Q5HYI6;Q92622-3;Q92622-2;Q92622	.|.;.;.;RUBIC_HUMAN	V|C	195|391;436;436	.|.	.|ENSP00000273582:S391C	L|S	-|-	1|2	2|0	KIAA0226|KIAA0226	198908272|198908272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.766000|7.766000	0.85320|0.85320	1.380000|1.380000	0.46344|0.46344	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.463	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		7	78	0	0	0	1	0	7	78				
FBXL7	23194	broad.mit.edu	37	5	15937124	15937124	+	Silent	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:15937124C>G	ENST00000504595.1	+	4	1786	c.1305C>G	c.(1303-1305)ctC>ctG	p.L435L	FBXL7_ENST00000510662.1_Silent_p.L388L|FBXL7_ENST00000329673.7_Silent_p.L423L|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	435					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGCTCAGCCTCAAGTCCTGCG	0.597																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1303-1305)ctC>ctG		F-box and leucine-rich repeat protein 7							64.0	68.0	66.0					5																	15937124		2062	4221	6283	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937124C>G	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1305C>G	5.37:g.15937124C>G						FBXL7_ENST00000510662.1_Silent_p.L388L|FBXL7_ENST00000329673.7_Silent_p.L423L	p.L435L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1786	+			435					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.1305C>G	CCDS54833.1																																																																																				0.597	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	53	0	0	0	1	0	5	53				
IFIH1	64135	broad.mit.edu	37	2	163134157	163134157	+	Missense_Mutation	SNP	C	C	G	rs118172671	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:163134157C>G	ENST00000263642.2	-	10	2207	c.1812G>C	c.(1810-1812)ttG>ttC	p.L604F		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	604					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGTACTTCCTCAAATGTTCTG	0.323																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(1810-1812)ttG>ttC		interferon induced with helicase C domain 1							120.0	113.0	116.0					2																	163134157		2203	4298	6501	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134157C>G	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1812G>C	2.37:g.163134157C>G	ENSP00000263642:p.Leu604Phe						p.L604F	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			10	2207	-			604					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1812G>C	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548768	0.65311	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.22945	1.93	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.90309	3.105	0.45087	D	0.998101	D	0.89917	1.0	D	0.97110	1.0	T	0.61744	-0.7000	10	0.52906	T	0.07	-11.5306	10.5144	0.44881	0.0:0.8535:0.0:0.1465	.	604	Q9BYX4	IFIH1_HUMAN	F	604	ENSP00000263642:L604F	ENSP00000263642:L604F	L	-	3	2	IFIH1	162842403	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.781000	0.26774	1.394000	0.46624	0.563000	0.77884	TTG		0.323	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		12	74	0	0	0	1	0	12	74				
STAB2	55576	broad.mit.edu	37	12	104046477	104046477	+	Silent	SNP	C	C	T	rs73187902	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:104046477C>T	ENST00000388887.2	+	12	1605	c.1401C>T	c.(1399-1401)agC>agT	p.S467S	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTTCAACAGCGATAAGGTAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		18999	0.0		0.002	False		,,,				2504	0.0					ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1399-1401)agC>agT		stabilin 2		C		4,4402	8.1+/-20.4	0,4,2199	73.0	68.0	70.0		1401	-11.6	0.0	12	dbSNP_130	70	14,8586	11.2+/-40.8	0,14,4286	no	coding-synonymous	STAB2	NM_017564.9		0,18,6485	TT,TC,CC		0.1628,0.0908,0.1384		467/2552	104046477	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046477C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1401C>T	12.37:g.104046477C>T							p.S467S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1605	+			467			FAS1 1.			Silent	SNP	ENST00000388887.2	37	c.1401C>T	CCDS31888.1																																																																																				0.408	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			15	72	0	0	0	1	0	15	72				
MACF1	23499	broad.mit.edu	37	1	39798699	39798699	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:39798699G>A	ENST00000372915.3	+	36	6541	c.6454G>A	c.(6454-6456)Gac>Aac	p.D2152N	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D2184N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.D2147N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.D587N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2152					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)			GTTGGTGGTTGACAAAGATGT	0.463																																						ENST00000564288.1																			0				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						c.(6439-6441)Gac>Aac		microtubule-actin crosslinking factor 1							62.0	60.0	61.0					1																	39798699		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.chr1:39798699G>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.6454G>A	1.37:g.39798699G>A	ENSP00000362006:p.Asp2152Asn					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D2184N|MACF1_ENST00000289893.4_Missense_Mutation_p.D587N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.D2152N	p.D2147N			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)		37	7216	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2152					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6439G>A		.	.	.	.	.	.	.	.	.	.	G	2.722	-0.266293	0.05754	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.67523	-0.27;0.66	5.7	3.72	0.42706	.	1.192680	0.05973	N	0.642722	T	0.51907	0.1702	N	0.14661	0.345	0.22342	N	0.999183	B	0.02656	0.0	B	0.04013	0.001	T	0.41270	-0.9518	10	0.49607	T	0.09	.	9.3745	0.38275	0.0773:0.1436:0.7791:0.0	.	2152	Q9UPN3	MACF1_HUMAN	N	2152;587	ENSP00000362006:D2152N;ENSP00000289893:D587N	ENSP00000289893:D587N	D	+	1	0	MACF1	39571286	0.197000	0.23362	0.008000	0.14137	0.310000	0.27922	-0.426000	0.07008	1.415000	0.47037	0.313000	0.20887	GAC		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	34	0	0	0	1	0	4	34				
TM9SF3	56889	broad.mit.edu	37	10	98287224	98287224	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:98287224G>C	ENST00000371142.4	-	13	1787	c.1571C>G	c.(1570-1572)tCa>tGa	p.S524*		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	524						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GATTGCAGTTGATGCAGCAGA	0.333																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(1570-1572)tCa>tGa		transmembrane 9 superfamily member 3							48.0	49.0	49.0					10																	98287224		2203	4298	6501	SO:0001587	stop_gained	56889					integral to membrane	binding	g.chr10:98287224G>C	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1571C>G	10.37:g.98287224G>C	ENSP00000360184:p.Ser524*						p.S524*	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	13	1787	-		Colorectal(252;0.158)	524					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Nonsense_Mutation	SNP	ENST00000371142.4	37	c.1571C>G	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	G	41	8.777840	0.98950	.	.	ENSG00000077147	ENST00000371142	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9231	19.0274	0.92937	0.0:0.0:1.0:0.0	.	.	.	.	X	524	.	ENSP00000360184:S524X	S	-	2	0	TM9SF3	98277214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.772000	0.98984	2.814000	0.96858	0.563000	0.77884	TCA		0.333	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		5	35	0	0	0	1	0	5	35				
SUCLA2	8803	broad.mit.edu	37	13	48523152	48523152	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr13:48523152C>T	ENST00000378654.3	-	10	1296	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	SUCLA2_ENST00000543413.1_Missense_Mutation_p.D356N|SUCLA2_ENST00000534875.1_Missense_Mutation_p.D356N|SUCLA2_ENST00000544100.1_Missense_Mutation_p.D280N	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	414					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTAGCATCATCGACTCGTGTA	0.338																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(1240-1242)Gat>Aat		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						219.0	200.0	206.0					13																	48523152		2203	4300	6503	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48523152C>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1240G>A	13.37:g.48523152C>T	ENSP00000367923:p.Asp414Asn					SUCLA2_ENST00000543413.1_Missense_Mutation_p.D356N|SUCLA2_ENST00000544100.1_Missense_Mutation_p.D280N|SUCLA2_ENST00000534875.1_Missense_Mutation_p.D356N	p.D414N	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	10	1296	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	414					B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.1240G>A	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.984676	0.35036	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.95	4.95	0.65309	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	L	0.43923	1.385	0.80722	D	1	B	0.32128	0.357	B	0.33568	0.166	T	0.74999	-0.3472	10	0.54805	T	0.06	-11.8055	17.5579	0.87897	0.0:1.0:0.0:0.0	.	414	Q9P2R7	SUCB1_HUMAN	N	414;392;280;356;356;242	ENSP00000367923:D414N;ENSP00000443412:D280N;ENSP00000438182:D356N;ENSP00000441056:D356N	ENSP00000367912:D392N	D	-	1	0	SUCLA2	47421153	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.371000	0.79600	2.446000	0.82766	0.561000	0.74099	GAT		0.338	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			35	65	0	0	0	1	0	35	65				
ZNF844	284391	broad.mit.edu	37	19	12186572	12186572	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr19:12186572C>A	ENST00000439326.3	+	4	812	c.637C>A	c.(637-639)Ctt>Att	p.L213I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAGCATATATCTTATACATGA	0.358																																						ENST00000439326.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(637-639)Ctt>Att		zinc finger protein 844							37.0	33.0	34.0					19																	12186572		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12186572C>A	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.637C>A	19.37:g.12186572C>A	ENSP00000392024:p.Leu213Ile					ZNF844_ENST00000441304.2_3'UTR	p.L213I	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	812	+			213					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.637C>A	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	7.861	0.726154	0.15439	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	T;T	0.53206	2.46;0.63	2.16	-4.33	0.03677	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21962	0.0529	N	0.16708	0.43	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.14090	-1.0485	9	0.19147	T	0.46	.	1.2095	0.01902	0.4574:0.1532:0.229:0.1604	.	213	Q08AG5	ZN844_HUMAN	I	213;213;188;56	ENSP00000392024:L213I;ENSP00000448588:L56I	ENSP00000392024:L213I	L	+	1	0	ZNF844	12047572	0.006000	0.16342	0.000000	0.03702	0.022000	0.10575	0.878000	0.28126	-2.449000	0.00544	-0.723000	0.03601	CTT		0.358	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			13	25	1	0	0.00185496	1	0.00190114	13	25				
MAL	4118	broad.mit.edu	37	2	95715329	95715329	+	Missense_Mutation	SNP	G	G	A	rs552937397	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr2:95715329G>A	ENST00000309988.4	+	3	374	c.265G>A	c.(265-267)Gca>Aca	p.A89T	MAL_ENST00000353004.3_Intron|AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000354078.3_Missense_Mutation_p.A33T|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	89	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCCATAGGACGCAGCCTACCA	0.652													G|||	18	0.00359425	0.0	0.0	5008	,	,		593	0.0		0.0	False		,,,				2504	0.0184					ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(265-267)Gca>Aca		mal, T-cell differentiation protein							129.0	116.0	120.0					2																	95715329		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95715329G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.265G>A	2.37:g.95715329G>A	ENSP00000310880:p.Ala89Thr					MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A33T|MAL_ENST00000353004.3_Intron	p.A89T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	3	374	+			89			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.265G>A	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	G	5.585	0.292733	0.10567	.	.	ENSG00000172005	ENST00000309988;ENST00000354078	T	0.26223	1.75	5.38	4.51	0.55191	Marvel (1);MARVEL-like domain (1);	0.564355	0.20173	N	0.097692	T	0.23171	0.0560	M	0.70903	2.155	0.09310	N	0.999999	B;P	0.48089	0.236;0.905	B;B	0.34489	0.026;0.184	T	0.23226	-1.0194	10	0.33940	T	0.23	.	9.9844	0.41832	0.0941:0.0:0.9059:0.0	.	33;89	P21145-3;P21145	.;MAL_HUMAN	T	89;33	ENSP00000310880:A89T	ENSP00000310880:A89T	A	+	1	0	MAL	95079056	0.024000	0.19004	0.908000	0.35775	0.041000	0.13682	1.040000	0.30278	1.281000	0.44480	-0.339000	0.08088	GCA		0.652	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		11	104	0	0	0	1	0	11	104				
IGHG3	3502	broad.mit.edu	37	14	106235831	106235831	+	RNA	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr14:106235831C>G	ENST00000390551.2	-	0	875							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTCAGGCTGACCTGGTTCTTG	0.632																																						ENST00000390551.2																			0																				113.0	120.0	118.0					14																	106235831		2024	4168	6192			3502							g.chr14:106235831C>G	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106235831C>G														0	875	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.632	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		33	181	0	0	0	1	0	33	181				
NRIP1	8204	broad.mit.edu	37	21	16337215	16337215	+	Nonsense_Mutation	SNP	G	G	C	rs143987252		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr21:16337215G>C	ENST00000400202.1	-	3	4011	c.3299C>G	c.(3298-3300)tCa>tGa	p.S1100*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S1100*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S1100*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1100	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGTGACCTGTGAGACACTTTC	0.398																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(3298-3300)tCa>tGa		nuclear receptor interacting protein 1							165.0	162.0	163.0					21																	16337215		2203	4300	6503	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337215G>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3299C>G	21.37:g.16337215G>C	ENSP00000383063:p.Ser1100*					NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S1100*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S1100*	p.S1100*			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	4011	-			1100					Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.3299C>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	45	11.497319	0.99568	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.87	5.87	0.94306	.	0.404188	0.19581	N	0.110873	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	3.9658	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	1100	.	ENSP00000327213:S1100X	S	-	2	0	NRIP1	15259086	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	5.037000	0.64170	2.941000	0.99782	0.655000	0.94253	TCA		0.398	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		31	142	0	0	0	1	0	31	142				
RBPJL	11317	broad.mit.edu	37	20	43938283	43938283	+	Missense_Mutation	SNP	C	C	T	rs369083610		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr20:43938283C>T	ENST00000343694.3	+	3	280	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	MATN4_ENST00000353917.5_5'Flank|RBPJL_ENST00000372741.3_Missense_Mutation_p.R70W|MATN4_ENST00000360607.6_5'Flank|MATN4_ENST00000342716.4_5'Flank|MATN4_ENST00000372751.4_5'Flank|RBPJL_ENST00000372743.1_Missense_Mutation_p.R70W|MATN4_ENST00000537548.1_5'Flank	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	70					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACAGACTGTGCGGATCCTGCA	0.607																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(208-210)Cgg>Tgg		recombination signal binding protein for immunoglobulin kappa J region-like		C	TRP/ARG	0,4406		0,0,2203	115.0	94.0	101.0		208	-3.0	0.9	20		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBPJL	NM_014276.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	70/518	43938283	1,13005	2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43938283C>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.208C>T	20.37:g.43938283C>T	ENSP00000341243:p.Arg70Trp					RBPJL_ENST00000372743.1_Missense_Mutation_p.R70W|RBPJL_ENST00000372741.3_Missense_Mutation_p.R70W	p.R70W	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			3	280	+		Myeloproliferative disorder(115;0.0122)	70					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.208C>T	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876498	0.51801	0.0	1.16E-4	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.82893	-1.66;-1.66;-1.66	5.53	-3.04	0.05412	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.860937	0.10327	N	0.688044	T	0.69070	0.3070	L	0.34521	1.04	0.21719	N	0.999575	B;B	0.11235	0.002;0.004	B;B	0.04013	0.0;0.001	T	0.55698	-0.8100	10	0.54805	T	0.06	-7.9496	4.4215	0.11482	0.2302:0.4361:0.0:0.3337	.	70;70	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	W	70	ENSP00000361828:R70W;ENSP00000361826:R70W;ENSP00000341243:R70W	ENSP00000341243:R70W	R	+	1	2	RBPJL	43371697	0.928000	0.31464	0.905000	0.35620	0.910000	0.53928	0.047000	0.14056	-0.451000	0.07097	0.456000	0.33151	CGG		0.607	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		22	28	0	0	0	1	0	22	28				
PLEKHA7	144100	broad.mit.edu	37	11	16838397	16838397	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr11:16838397C>G	ENST00000355661.3	-	11	1826	c.1816G>C	c.(1816-1818)Gac>Cac	p.D606H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D606H|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D606H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	606	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCGAGATGTCCACACTCCTC	0.662																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1816-1818)Gac>Cac		pleckstrin homology domain containing, family A member 7							58.0	51.0	54.0					11																	16838397		2200	4292	6492	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838397C>G	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1816G>C	11.37:g.16838397C>G	ENSP00000347883:p.Asp606His					PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D606H|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D606H	p.D606H			Q6IQ23	PKHA7_HUMAN			11	1826	-			606			Interaction with CTNND1.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1816G>C	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.022470|4.022470	0.75275|0.75275	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080|ENST00000530489	T;T;T|.	0.36520|.	1.25;1.25;1.25|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.174863|.	0.50627|.	D|.	0.000108|.	T|T	0.72366|0.72366	0.3451|0.3451	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.985;0.999;0.999;1.0|.	P;D;D;D|.	0.72075|.	0.896;0.944;0.921;0.976|.	T|T	0.70702|0.70702	-0.4799|-0.4799	10|5	0.42905|.	T|.	0.14|.	-22.5347|-22.5347	18.558|18.558	0.91091|0.91091	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	180;606;606;606|.	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2|.	.;.;PKHA7_HUMAN;.|.	H|C	606|236	ENSP00000435389:D606H;ENSP00000347883:D606H;ENSP00000416895:D606H|.	ENSP00000347883:D606H|.	D|W	-|-	1|3	0|0	PLEKHA7|PLEKHA7	16794973|16794973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	5.123000|5.123000	0.64703|0.64703	2.371000|2.371000	0.80710|0.80710	0.563000|0.563000	0.77884|0.77884	GAC|TGG		0.662	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		5	72	0	0	0	1	0	5	72				
GLIPR1L2	144321	broad.mit.edu	37	12	75785095	75785095	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr12:75785095G>A	ENST00000550916.1	+	1	246	c.199G>A	c.(199-201)Gac>Aac	p.D67N	GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000441218.1_5'Flank|GLIPR1L2_ENST00000378689.2_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.D67N|CAPS2_ENST00000442339.2_5'Flank|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.D67N	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	67	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTGCGGGGCGACGTCATTCC	0.562											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000550916.1																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(199-201)Gac>Aac		GLI pathogenesis-related 1 like 2							110.0	85.0	93.0					12																	75785095		2203	4300	6503	SO:0001583	missense	144321					integral to membrane		g.chr12:75785095G>A	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.199G>A	12.37:g.75785095G>A	ENSP00000448248:p.Asp67Asn		OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1163	GLIPR1L2_ENST00000378689.2_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.D67N	p.D67N	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN			1	246	+			67					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.199G>A	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.252805	0.01469	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378689;ENST00000320460;ENST00000547164	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	3.77	-1.74	0.08056	CAP domain (3);	0.993096	0.08189	N	0.984200	T	0.02610	0.0079	N	0.02674	-0.535	0.19775	N	0.999956	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.47209	-0.9135	10	0.16896	T	0.51	.	3.9383	0.09314	0.4778:0.192:0.3301:0.0	.	67;67	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	N	67	ENSP00000448248:D67N;ENSP00000398328:D67N;ENSP00000367960:D67N;ENSP00000317385:D67N;ENSP00000447980:D67N	ENSP00000317385:D67N	D	+	1	0	GLIPR1L2	74071362	0.022000	0.18835	0.015000	0.15790	0.063000	0.16089	0.081000	0.14823	-0.249000	0.09569	-1.358000	0.01219	GAC		0.562	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		6	92	0	0	0	1	0	6	92				
MACF1	23499	broad.mit.edu	37	1	39838149	39838150	+	Splice_Site	DEL	AG	AG	-			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:39838149_39838150delAG	ENST00000372915.3	+	51	13197		c.e51-1		MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000289893.4_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						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)			TTCTTTAAACAGAGTCTACTAG	0.386																																						ENST00000564288.1																			0				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						c.e52-1		microtubule-actin crosslinking factor 1																																				SO:0001630	splice_region_variant	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.chr1:39838149_39838150delAG	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.13111-1AG>-	1.37:g.39838151_39838152delAG						MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000545844.1_Splice_Site				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)		52	13872	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	DEL	ENST00000372915.3	37																																																																																						0.386	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Intron	8	63						8	63	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53793508	53793509	+	In_Frame_Ins	INS	-	-	GCC			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr1:53793508_53793509insGCC	ENST00000306052.6	-	1	177_178	c.76_77insGGC	c.(76-78)ctc>cGGCtc	p.25_26insR	LRP8_ENST00000354412.3_In_Frame_Ins_p.25_26insR|RP4-784A16.5_ENST00000445039.2_lincRNA|LRP8_ENST00000465675.1_5'Flank|LRP8_ENST00000347547.2_In_Frame_Ins_p.25_26insR|LRP8_ENST00000371454.2_In_Frame_Ins_p.25_26insR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	25			Q -> R (in dbSNP:rs4926972). {ECO:0000269|PubMed:11152697, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8626535, ECO:0000269|PubMed:9079678}.		ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						AAGATGCTGGagctgcagcagc	0.728																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(76-78)cca>GGCcca		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor																																				SO:0001652	inframe_insertion	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53793508_53793509insGCC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.76_77insGGC	1.37:g.53793508_53793509insGCC	ENSP00000303634:p.Gln25_Leu26insArg					LRP8_ENST00000371454.2_In_Frame_Ins_p.25_26insG|LRP8_ENST00000354412.3_In_Frame_Ins_p.25_26insG|LRP8_ENST00000347547.2_In_Frame_Ins_p.25_26insG	p.25_26insG	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			1	177_178	-			25		Q -> R (in dbSNP:rs4926972).			B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	In_Frame_Ins	INS	ENST00000306052.6	37	c.76_77insGGC	CCDS578.1																																																																																				0.728	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		2	4						2	4	---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45785086	45785087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:45785086_45785087insT	ENST00000389061.5	+	20	1893_1894	c.1689_1690insT	c.(1690-1692)tttfs	p.F564fs	RN7SL145P_ENST00000469955.2_RNA|SACM1L_ENST00000418611.1_Frame_Shift_Ins_p.F461fs|SACM1L_ENST00000541314.1_Frame_Shift_Ins_p.F503fs	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	564					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GCATTGGAACATTTTTTATCAT	0.391																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(1687-1692)acttttfs		SAC1 suppressor of actin mutations 1-like (yeast)																																				SO:0001589	frameshift_variant	22908					Golgi apparatus		g.chr3:45785086_45785087insT	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1695dupT	3.37:g.45785092_45785092dupT	ENSP00000373713:p.Phe564fs					SACM1L_ENST00000541314.1_Frame_Shift_Ins_p.TF502fs|SACM1L_ENST00000418611.1_Frame_Shift_Ins_p.TF460fs	p.TF563fs	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	20	1893_1894	+			563					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Frame_Shift_Ins	INS	ENST00000389061.5	37	c.1689_1690insT	CCDS33745.1																																																																																				0.391	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		28	114						28	114	---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186572338	186572339	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:186572338_186572339insT	ENST00000412955.2	+	3	721_722	c.580_581insT	c.(580-582)gtgfs	p.V194fs	ADIPOQ_ENST00000320741.2_Frame_Shift_Ins_p.V194fs|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Frame_Shift_Ins_p.V194fs			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	194	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGAAAATAATGTGGACCAGGCC	0.515																																						ENST00000412955.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16						c.(580-582)ggafs		adiponectin, C1Q and collagen domain containing																																				SO:0001589	frameshift_variant	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572338_186572339insT	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.581dupT	3.37:g.186572339_186572339dupT	ENSP00000405611:p.Val194fs					ADIPOQ_ENST00000444204.2_Frame_Shift_Ins_p.G194fs|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Frame_Shift_Ins_p.G194fs	p.G194fs			Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	721_722	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		194			C1q.		Q58EX9	Frame_Shift_Ins	INS	ENST00000412955.2	37	c.580_581insT	CCDS3284.1																																																																																				0.515	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		19	108						19	108	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189582134	189582135	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr3:189582134_189582135insA	ENST00000264731.3	+	5	782_783	c.693_694insA	c.(694-696)aaafs	p.K232fs	TP63_ENST00000320472.5_Frame_Shift_Ins_p.K232fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.K138fs|TP63_ENST00000449992.1_Frame_Shift_Ins_p.K53fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.K232fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.K232fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.K138fs|TP63_ENST00000456148.1_Frame_Shift_Ins_p.K138fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.K232fs|TP63_ENST00000382063.4_Frame_Shift_Ins_p.K147fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.K138fs|TP63_ENST00000354600.5_Frame_Shift_Ins_p.K138fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	232			K -> E (in SHFM4). {ECO:0000269|PubMed:11462173}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGCCTGTCTACAAAAAAGCTGA	0.51										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	GRCh37	CM013064	TP63	M		c.(691-696)taaaaafs		tumor protein p63																																				SO:0001589	frameshift_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582134_189582135insA	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.699dupA	3.37:g.189582140_189582140dupA	ENSP00000264731:p.Lys232fs	HNSCC(45;0.13)				TP63_ENST00000320472.5_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000449992.1_Frame_Shift_Ins_p.*K52fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000354600.5_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000382063.4_Frame_Shift_Ins_p.*K146fs|TP63_ENST00000456148.1_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.*K137fs	p.*K231fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	782_783	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		231					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Frame_Shift_Ins	INS	ENST00000264731.3	37	c.693_694insA	CCDS3293.1																																																																																				0.510	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		11	143						11	143	---	---	---	---
CTD-2296D1.4	0	broad.mit.edu	37	5	7372660	7372662	+	RNA	DEL	CAT	CAT	-	rs369495569		TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:7372660_7372662delCAT	ENST00000513219.1	-	0	202				CTD-2296D1.5_ENST00000500616.2_lincRNA																							ccaccaccaccatcaccaccacc	0.601																																						ENST00000513219.1																			0																																																			0							g.chr5:7372660_7372662delCAT																													5.37:g.7372660_7372662delCAT														0	202	-									RNA	DEL	ENST00000513219.1	37																																																																																						0.601	CTD-2296D1.4-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000366353.1			3	4						3	4	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131726594	131726595	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr5:131726594_131726595insA	ENST00000245407.3	+	7	1486_1487	c.1265_1266insA	c.(1264-1269)ccagacfs	p.D423fs	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.D447fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	423					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTGGTACCCCCAGGTAGGGACC	0.515																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1264-1266)cgafs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131726594_131726595insA	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1266dupA	5.37:g.131726595_131726595dupA	ENSP00000245407:p.Asp423fs					SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.R446fs|SLC22A5_ENST00000479605.1_3'UTR	p.R422fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1486_1487	+		all_cancers(142;0.0751)|Breast(839;0.198)	422					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.1265_1266insA	CCDS4154.1																																																																																				0.515	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		9	45						9	45	---	---	---	---
PITRM1	10531	broad.mit.edu	37	10	3206071	3206074	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr10:3206071_3206074delTGTC	ENST00000224949.4	-	7	668_671	c.634_637delGACA	c.(634-639)gacaatfs	p.DN212fs	PITRM1_ENST00000451104.2_Frame_Shift_Del_p.DN180fs|PITRM1_ENST00000380989.2_Frame_Shift_Del_p.DN212fs|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	212				D -> N (in Ref. 3; CAI40001). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCCTCTCATTGTCTGTCTTGAAA	0.412																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(634-639)atfs		pitrilysin metallopeptidase 1																																				SO:0001589	frameshift_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3206071_3206074delTGTC	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.634_637delGACA	10.37:g.3206075_3206078delTGTC	ENSP00000224949:p.Asp212fs					PITRM1_ENST00000224949.4_Frame_Shift_Del_p.DN212fs|PITRM1_ENST00000451104.2_Frame_Shift_Del_p.DN180fs|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	p.DN212fs	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			7	672_675	-			180					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Frame_Shift_Del	DEL	ENST00000224949.4	37	c.634_637delGACA	CCDS59208.1																																																																																				0.412	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			10	50						10	50	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	8						6	8	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790224	80790225	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-T3-A92M-01A-31D-A391-08	TCGA-T3-A92M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91f3779-4ab6-425f-b667-19fbda3f8cca	698fe76b-d251-4cd4-aced-378aeee4c037	g.chr17:80790224_80790225insCA	ENST00000269394.3	-	2	939_940	c.106_107insTG	c.(106-108)gagfs	p.E36fs	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	36					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGTGACTTCTCATTGCAAGTA	0.411																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(106-108)gaafs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80790224_80790225insCA	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.105_106dupTG	17.37:g.80790225_80790226dupCA	ENSP00000269394:p.Glu36fs					TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	p.E36fs	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	939_940	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	36					Q9H899	Frame_Shift_Ins	INS	ENST00000269394.3	37	c.106_107insTG	CCDS11819.1																																																																																				0.411	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		35	59						35	59	---	---	---	---
