#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NPHP4	261734	broad.mit.edu	37	1	5947504	5947504	+	Missense_Mutation	SNP	G	G	A	rs201527181	byFrequency	TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:5947504G>A	ENST00000378156.4	-	18	2592	c.2327C>T	c.(2326-2328)cCg>cTg	p.P776L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	776			P -> R (in NPHP4; dbSNP:rs201527181). {ECO:0000269|PubMed:15776426}.		actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACAGCCGGCCGGCCTTG	0.637																																						uc001alq.1		NA																	0				pancreas(1)	1	GRCh37	CM051577	NPHP4	M		c.(2326-2328)CCG>CTG		nephroretinin							39.0	46.0	44.0					1																	5947504		2010	4174	6184	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5947504G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2327C>T	1.37:g.5947504G>A	ENSP00000367398:p.Pro776Leu					NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	p.P776L	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	18	2593	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	776		P -> R (in NPHP4).			Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2327C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634758	0.67130	.	.	ENSG00000131697	ENST00000378156	D	0.87334	-2.24	5.46	5.46	0.80206	.	0.162995	0.41938	D	0.000787	D	0.87993	0.6318	L	0.60455	1.87	0.54753	D	0.999989	D	0.63880	0.993	P	0.46543	0.52	D	0.89491	0.3757	10	0.72032	D	0.01	.	18.288	0.90120	0.0:0.0:1.0:0.0	.	776	O75161	NPHP4_HUMAN	L	776	ENSP00000367398:P776L	ENSP00000367398:P776L	P	-	2	0	NPHP4	5870091	0.982000	0.34865	0.944000	0.38274	0.079000	0.17450	4.643000	0.61390	2.549000	0.85964	0.655000	0.94253	CCG		0.637	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			10	46	0	0	0	0	10	46				
VPS13D	55187	broad.mit.edu	37	1	12446279	12446279	+	Silent	SNP	C	C	T	rs576022467		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:12446279C>T	ENST00000358136.3	+	60	11650	c.11520C>T	c.(11518-11520)tcC>tcT	p.S3840S	VPS13D_ENST00000356315.4_Silent_p.S3815S|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGGTTGTCCTTAATTAATA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19723	0.0		0.0	False		,,,				2504	0.001					uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(11518-11520)TCC>TCT		vacuolar protein sorting 13D isoform 1							172.0	173.0	173.0					1																	12446279		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12446279C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11520C>T	1.37:g.12446279C>T						VPS13D_uc001atw.2_Silent_p.S3815S|VPS13D_uc001atx.2_Silent_p.S3027S|VPS13D_uc009vnl.2_RNA	p.S3840S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	60	11661	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3839						Silent	SNP	ENST00000358136.3	37	c.11520C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223473	0.22457	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.17	-0.649	0.11461	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	.	1.176	0.01835	0.2424:0.3272:0.0932:0.3372	.	.	.	.	L	2662	.	.	P	+	2	0	VPS13D	12368866	0.451000	0.25705	0.997000	0.53966	0.997000	0.91878	-0.357000	0.07651	0.139000	0.18822	0.655000	0.94253	CCT		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		8	143	0	0	0	0	8	143				
ARID1A	8289	broad.mit.edu	37	1	27088796	27088796	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:27088796A>C	ENST00000324856.7	+	7	2776	c.2405A>C	c.(2404-2406)cAg>cCg	p.Q802P	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q419P|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q802P|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	802					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGGGGGTCAGTATGGCCCA	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2404-2406)CAG>CCG		AT rich interactive domain 1A isoform a							53.0	56.0	55.0					1																	27088796		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27088796A>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2405A>C	1.37:g.27088796A>C	ENSP00000320485:p.Gln802Pro					ARID1A_uc001bmt.1_Missense_Mutation_p.Q802P|ARID1A_uc001bmu.1_Missense_Mutation_p.Q802P|ARID1A_uc001bmw.1_Missense_Mutation_p.Q419P	p.Q802P	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	7	2778	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	802					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2405A>C	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644344	0.67244	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.24908	1.83;1.83;3.65	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.78314	0.979;0.991;0.979	T	0.48670	-0.9015	10	0.39692	T	0.17	-7.2166	15.6414	0.77006	1.0:0.0:0.0:0.0	.	802;802;456	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	P	802;802;419	ENSP00000320485:Q802P;ENSP00000387636:Q802P;ENSP00000363267:Q419P	ENSP00000320485:Q802P	Q	+	2	0	ARID1A	26961383	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.761000	0.91691	2.279000	0.76181	0.533000	0.62120	CAG		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		14	80	0	0	0	0	14	80				
MROH7	374977	broad.mit.edu	37	1	55118866	55118866	+	Silent	SNP	C	C	A	rs375679935		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:55118866C>A	ENST00000421030.2	+	3	552	c.267C>A	c.(265-267)atC>atA	p.I89I	MROH7_ENST00000395690.2_Silent_p.I89I|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7-TTC4_ENST00000414150.2_Silent_p.I89I|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Silent_p.I89I|MROH7_ENST00000409996.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	89						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCAGAGCTATCGCTCCAGCCT	0.557																																						uc010ooe.1		NA																	0					0						c.(265-267)ATC>ATA		hypothetical protein LOC374977							75.0	75.0	75.0					1																	55118866		1967	4143	6110	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55118866C>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.267C>A	1.37:g.55118866C>A						C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.I89I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.I89I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.I89I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			3	591	+			89					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.267C>A	CCDS41342.2																																																																																				0.557	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		4	93	1	0	0.00909568	0.00972732	4	93				
HFM1	164045	broad.mit.edu	37	1	91851392	91851392	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:91851392C>G	ENST00000370425.3	-	5	593		c.e5-1		HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATAATCTGCAAACAAA	0.328																																						uc001doa.3		NA																	0					0						c.e5-1		HFM1 protein							48.0	49.0	49.0					1																	91851392		2202	4298	6500	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851392C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.495-1G>C	1.37:g.91851392C>G						HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Splice_Site_p.R165_splice	p.R165_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	595	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)						B1B0B6|Q8N9Q0	Splice_Site	SNP	ENST00000370425.3	37	c.495_splice	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009149	0.54361	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HFM1	91623980	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.986000	0.49370	2.826000	0.97356	0.655000	0.94253	.		0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Intron	5	59	0	0	0	0	5	59				
CELSR2	1952	broad.mit.edu	37	1	109793507	109793507	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109793507G>T	ENST00000271332.3	+	1	867	c.806G>T	c.(805-807)cGa>cTa	p.R269L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	269	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGCCCCGACGAAGTGCCCTG	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(805-807)CGA>CTA		cadherin EGF LAG seven-pass G-type receptor 2							97.0	82.0	87.0					1																	109793507		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793507G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.806G>T	1.37:g.109793507G>T	ENSP00000271332:p.Arg269Leu						p.R269L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	867	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	269			Cadherin 1.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.806G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.29	3.080198	0.55753	.	.	ENSG00000143126	ENST00000271332	T	0.01685	4.69	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01222	0.0040	N	0.05414	-0.055	0.50039	D	0.99984	D	0.64830	0.994	D	0.65684	0.937	T	0.72047	-0.4408	9	0.09084	T	0.74	.	14.72	0.69300	0.0:0.0:0.8551:0.1449	.	269	Q9HCU4	CELR2_HUMAN	L	269	ENSP00000271332:R269L	ENSP00000271332:R269L	R	+	2	0	CELSR2	109595030	0.992000	0.36948	0.999000	0.59377	0.992000	0.81027	4.479000	0.60236	2.538000	0.85594	0.555000	0.69702	CGA		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		8	59	1	0	1.07e-07	1.22e-07	8	59				
SORT1	6272	broad.mit.edu	37	1	109897024	109897024	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109897024G>C	ENST00000256637.6	-	5	731	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	SORT1_ENST00000482236.1_5'Flank|SORT1_ENST00000538502.1_Missense_Mutation_p.Q89E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	225					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGAATTCTGAGGGCTATAC	0.383																																						uc001dxm.1		NA																	0				ovary(1)	1						c.(673-675)CAG>GAG		sortilin 1 preproprotein							125.0	123.0	124.0					1																	109897024		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109897024G>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.673C>G	1.37:g.109897024G>C	ENSP00000256637:p.Gln225Glu					SORT1_uc010ovi.1_Missense_Mutation_p.Q89E|SORT1_uc009wfb.2_Missense_Mutation_p.Q89E	p.Q225E	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	5	722	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	225			Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.673C>G	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362074	0.24684	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.21191	2.02;2.02	5.41	3.46	0.39613	VPS10 (1);	0.440664	0.26149	N	0.026056	T	0.03011	0.0089	N	0.12746	0.255	0.32842	D	0.505486	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41945	-0.9480	10	0.09084	T	0.74	-0.6668	10.0047	0.41951	0.0:0.4079:0.4496:0.1425	.	89;225	B4DWI3;Q99523	.;SORT_HUMAN	E	225;89	ENSP00000256637:Q225E;ENSP00000438597:Q89E	ENSP00000256637:Q225E	Q	-	1	0	SORT1	109698547	0.994000	0.37717	0.995000	0.50966	0.998000	0.95712	1.705000	0.37867	0.585000	0.29608	0.655000	0.94253	CAG		0.383	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		5	71	0	0	0	0	5	71				
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:145359169T>A	ENST00000342960.5	+	72	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	595						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L3037M(7)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458																																						uc001end.3		NA																	7	Substitution - Missense(7)		endometrium(2)|kidney(2)|prostate(1)|NS(1)|lung(1)		0						c.(9334-9336)TTG>ATG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145359169T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9109T>A	1.37:g.145359169T>A	ENSP00000345684:p.Leu3037Met					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron	p.L3112M	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9369	+	all_hematologic(923;0.032)		3037					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9334T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.875	-0.730814	0.03135	.	.	ENSG00000163386	ENST00000342960	T	0.08807	3.05	.	.	.	.	.	.	.	.	T	0.03959	0.0111	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.42932	-0.9422	5	0.15952	T	0.53	.	.	.	.	.	.	.	.	M	3037	ENSP00000345684:L3037M	ENSP00000345684:L3037M	L	+	1	2	NBPF10	144070526	0.004000	0.15560	0.009000	0.14445	0.015000	0.08874	0.960000	0.29253	0.386000	0.24997	0.128000	0.15822	TTG		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	724	0	0	0	0	8	724				
HRNR	388697	broad.mit.edu	37	1	152187542	152187542	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:152187542T>C	ENST00000368801.2	-	3	6638	c.6563A>G	c.(6562-6564)cAt>cGt	p.H2188R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2188					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGACCCATGTCGGCCGCG	0.647																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6562-6564)CAT>CGT		hornerin							38.0	47.0	44.0					1																	152187542		2173	4284	6457	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187542T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6563A>G	1.37:g.152187542T>C	ENSP00000357791:p.His2188Arg						p.H2188R	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6639	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2188			24		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6563A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.569	0.289829	0.10567	.	.	ENSG00000197915	ENST00000368801	T	0.02280	4.36	3.41	-0.48	0.12085	.	.	.	.	.	T	0.00496	0.0016	L	0.41824	1.3	0.09310	N	1	B	0.34290	0.447	B	0.25759	0.063	T	0.46965	-0.9153	9	0.25106	T	0.35	.	0.3861	0.00403	0.1831:0.2254:0.1883:0.4032	.	2188	Q86YZ3	HORN_HUMAN	R	2188	ENSP00000357791:H2188R	ENSP00000357791:H2188R	H	-	2	0	HRNR	150454166	0.013000	0.17824	0.000000	0.03702	0.025000	0.11179	1.076000	0.30729	-0.202000	0.10268	-0.256000	0.11100	CAT		0.647	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		13	243	0	0	0	0	13	243				
PRCC	5546	broad.mit.edu	37	1	156770249	156770249	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:156770249C>T	ENST00000271526.4	+	7	1745	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	PRCC_ENST00000353233.3_Silent_p.F459F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	491					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATATGGATTCTAGGGCTCTG	0.597			T	TFE3	papillary renal																																	uc001fqa.2		NA		Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	0				kidney(25)|central_nervous_system(2)	27						c.(1471-1473)TTC>TTT		papillary renal cell carcinoma							65.0	64.0	65.0					1																	156770249		2203	4300	6503	SO:0001819	synonymous_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156770249C>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1473C>T	1.37:g.156770249C>T						PRCC_uc001fqb.2_Silent_p.F459F	p.F491F	NM_005973	NP_005964	Q92733	PRCC_HUMAN			7	1763	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		491					A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	ENST00000271526.4	37	c.1473C>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.005966	0.19199	.	.	ENSG00000143294	ENST00000454659	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54050	-0.8351	4	.	.	.	-1.4509	11.204	0.48758	0.0:0.9152:0.0:0.0848	.	.	.	.	F	257	.	.	S	+	2	0	PRCC	155036873	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.834000	0.48167	2.518000	0.84900	0.563000	0.77884	TCT		0.597	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		11	83	0	0	0	0	11	83				
ASTN1	460	broad.mit.edu	37	1	176993768	176993768	+	Silent	SNP	A	A	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:176993768A>T	ENST00000367654.3	-	6	1432	c.1221T>A	c.(1219-1221)ccT>ccA	p.P407P	ASTN1_ENST00000361833.2_Silent_p.P407P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.P407P|ASTN1_ENST00000424564.2_Silent_p.P407P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	407					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGACAACGAGAGGGCAGTTGA	0.537																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1219-1221)CCT>CCA		astrotactin isoform 1							149.0	119.0	129.0					1																	176993768		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993768A>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1221T>A	1.37:g.176993768A>T						ASTN1_uc001glb.1_Silent_p.P407P|ASTN1_uc001gld.1_Silent_p.P407P|ASTN1_uc009wwx.1_Silent_p.P407P|ASTN1_uc001gle.3_RNA	p.P407P	NM_004319	NP_004310	O14525	ASTN1_HUMAN			6	1433	-			407					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1221T>A																																																																																					0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	36	0	0	0	0	5	36				
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:204115797G>A	ENST00000367202.4	-	3	764	c.614C>T	c.(613-615)aCg>aTg	p.T205M	ETNK2_ENST00000367198.2_Missense_Mutation_p.T27M|ETNK2_ENST00000367201.3_Missense_Mutation_p.T205M|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.T205M(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCACAAGCGTGAAATAATT	0.502																																						uc001hao.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(613-615)ACG>ATG		ethanolamine kinase 2							203.0	174.0	184.0					1																	204115797		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115797G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.614C>T	1.37:g.204115797G>A	ENSP00000356170:p.Thr205Met					ETNK2_uc010pqr.1_Missense_Mutation_p.T27M|ETNK2_uc001han.3_Missense_Mutation_p.T205M|ETNK2_uc010pqs.1_Intron|ETNK2_uc010pqt.1_Missense_Mutation_p.T27M	p.T205M	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	941	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		205					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.614C>T	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932393	0.52866	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.34	4.42	0.53409	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.396532	0.30473	N	0.009560	T	0.34513	0.0900	L	0.33245	0.995	0.36903	D	0.890482	P;P	0.39480	0.46;0.675	B;B	0.29862	0.108;0.094	T	0.44832	-0.9302	10	0.52906	T	0.07	-12.0424	7.9755	0.30153	0.0817:0.0:0.7597:0.1586	.	205;205	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	M	205;205;71;27;71;62	ENSP00000356169:T205M;ENSP00000356170:T205M;ENSP00000356166:T27M;ENSP00000405497:T71M;ENSP00000398091:T62M	ENSP00000356166:T27M	T	-	2	0	ETNK2	202382420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.809000	0.55606	1.478000	0.48253	0.655000	0.94253	ACG		0.502	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		11	94	0	0	0	0	11	94				
KIAA1462	57608	broad.mit.edu	37	10	30336618	30336618	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:30336618C>T	ENST00000375377.1	-	2	225	c.124G>A	c.(124-126)Ggc>Agc	p.G42S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	42					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTCTGCAGGCCCTGGCCTGCT	0.637																																						uc001iux.2		NA																	0				ovary(4)	4						c.(124-126)GGC>AGC		hypothetical protein LOC57608							55.0	61.0	59.0					10																	30336618		2039	4180	6219	SO:0001583	missense	57608							g.chr10:30336618C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.124G>A	10.37:g.30336618C>T	ENSP00000364526:p.Gly42Ser					KIAA1462_uc001iuy.2_Missense_Mutation_p.G42S|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.G42S	p.G42S	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	183	-			42					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.124G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594324	0.46214	.	.	ENSG00000165757	ENST00000375377	T	0.14640	2.49	5.19	3.3	0.37823	.	0.276491	0.30210	N	0.010149	T	0.19248	0.0462	M	0.67953	2.075	0.36251	D	0.853926	P	0.49961	0.93	P	0.48795	0.59	T	0.18777	-1.0326	10	0.23302	T	0.38	-15.8337	8.6857	0.34236	0.0:0.7658:0.1508:0.0833	.	42	Q9P266	K1462_HUMAN	S	42	ENSP00000364526:G42S	ENSP00000364526:G42S	G	-	1	0	KIAA1462	30376624	0.007000	0.16637	0.332000	0.25469	0.215000	0.24574	0.376000	0.20535	0.657000	0.30906	0.467000	0.42956	GGC		0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	47	0	0	0	0	7	47				
ANK3	288	broad.mit.edu	37	10	61836161	61836161	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:61836161G>A	ENST00000280772.2	-	37	4669	c.4478C>T	c.(4477-4479)tCa>tTa	p.S1493L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1493					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTGTATGAGTAAGTGGT	0.418																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4477-4479)TCA>TTA		ankyrin 3 isoform 1							85.0	85.0	85.0					10																	61836161		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61836161G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4478C>T	10.37:g.61836161G>A	ENSP00000280772:p.Ser1493Leu					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	p.S1493L	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	4670	-			1493					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4478C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930085	0.73327	.	.	ENSG00000151150	ENST00000280772	T	0.67345	-0.26	5.69	5.69	0.88448	.	0.000000	0.35349	N	0.003264	T	0.63686	0.2532	L	0.51422	1.61	0.80722	D	1	P	0.44734	0.842	B	0.37731	0.257	T	0.68815	-0.5309	10	0.62326	D	0.03	.	19.7994	0.96500	0.0:0.0:1.0:0.0	.	1493	Q12955	ANK3_HUMAN	L	1493	ENSP00000280772:S1493L	ENSP00000280772:S1493L	S	-	2	0	ANK3	61506167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.684000	0.91462	0.585000	0.79938	TCA		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	36	0	0	0	0	8	36				
TDRD1	56165	broad.mit.edu	37	10	115980379	115980379	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:115980379G>A	ENST00000369280.1	+	19	3007	c.2547G>A	c.(2545-2547)caG>caA	p.Q849Q	TDRD1_ENST00000422662.1_Silent_p.Q453Q|TDRD1_ENST00000251864.2_Silent_p.Q849Q|TDRD1_ENST00000369281.2_Silent_p.Q735Q|TDRD1_ENST00000369282.1_Silent_p.Q849Q			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	849					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.Q849H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAGATTCCAGATGTGTGTTG	0.388																																						uc001lbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2545-2547)CAG>CAA		tudor domain containing 1							111.0	106.0	108.0					10																	115980379		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115980379G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2547G>A	10.37:g.115980379G>A						TDRD1_uc001lbf.2_Silent_p.Q726Q|TDRD1_uc001lbh.1_Silent_p.Q840Q|TDRD1_uc001lbi.1_Silent_p.Q840Q|TDRD1_uc010qsc.1_Silent_p.Q453Q|TDRD1_uc001lbj.2_Silent_p.Q558Q	p.Q849Q	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	19	2700	+		Colorectal(252;0.172)|Breast(234;0.188)	849					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2547G>A																																																																																					0.388	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			4	78	0	0	0	0	4	78				
B4GALNT4	338707	broad.mit.edu	37	11	379925	379925	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:379925C>T	ENST00000329962.6	+	16	2548	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	850					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.R850C(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGCGCGCACCGGGGA	0.687																																						uc001lpb.2		NA																	1	Substitution - Missense(1)		kidney(1)	pancreas(1)	1						c.(2548-2550)CGC>TGC		beta							33.0	36.0	35.0					11																	379925		2202	4296	6498	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379925C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2548C>T	11.37:g.379925C>T	ENSP00000328277:p.Arg850Cys						p.R850C	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2557	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	850			Lumenal (Potential).		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2548C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	11.85	1.763055	0.31228	.	.	ENSG00000182272	ENST00000329962	T	0.36157	1.27	3.73	3.73	0.42828	.	1.152560	0.06091	N	0.663715	T	0.33469	0.0864	N	0.17082	0.46	0.09310	N	1	D	0.71674	0.998	P	0.51866	0.682	T	0.22277	-1.0221	10	0.54805	T	0.06	-8.5595	6.9118	0.24338	0.3786:0.4741:0.1473:0.0	.	850	Q76KP1	B4GN4_HUMAN	C	850	ENSP00000328277:R850C	ENSP00000328277:R850C	R	+	1	0	B4GALNT4	369925	0.001000	0.12720	0.333000	0.25482	0.287000	0.27160	0.605000	0.24179	2.073000	0.62155	0.561000	0.74099	CGC		0.687	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		6	51	0	0	0	0	6	51				
TRIM22	10346	broad.mit.edu	37	11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T	rs372042006		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:5730360C>T	ENST00000379965.3	+	8	1256	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413																																					GBM(104;491 2336 5222)	uc001mbr.2		NA																	0					0						c.(979-981)CGC>TGC		tripartite motif-containing 22							158.0	146.0	150.0					11																	5730360		1918	4147	6065	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730360C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.979C>T	11.37:g.5730360C>T	ENSP00000369299:p.Arg327Cys					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.R323C|TRIM22_uc010qzm.1_Missense_Mutation_p.R155C|TRIM22_uc009yeu.2_Missense_Mutation_p.R138C|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	p.R327C	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1256	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	327			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.979C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986762	0.18889	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293	T;T	0.64260	3.55;-0.09	3.94	-7.88	0.01178	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.008;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.15954	-1.0419	9	0.52906	T	0.07	.	0.8054	0.01083	0.1929:0.1806:0.2877:0.3389	.	249;323;327	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	C	327;138;295;249	ENSP00000369299:R327C;ENSP00000393250:R295C	ENSP00000369299:R327C	R	+	1	0	TRIM22	5686936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.975000	0.00164	-1.989000	0.00979	-0.459000	0.05422	CGC		0.413	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		8	79	0	0	0	0	8	79				
ELF5	2001	broad.mit.edu	37	11	34515223	34515223	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:34515223T>C	ENST00000312319.2	-	3	417	c.188A>G	c.(187-189)tAc>tGc	p.Y63C	ELF5_ENST00000528709.1_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.Y53C|ELF5_ENST00000257832.2_Missense_Mutation_p.Y53C|ELF5_ENST00000429939.2_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	63	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTTAGTCCAGTATTCAGGGTG	0.532											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(61;202 1660 4348 21594)	uc001mvo.1		NA																	0				skin(1)	1						c.(187-189)TAC>TGC		E74-like factor 5 ESE-2a							81.0	75.0	77.0					11																	34515223		2202	4298	6500	SO:0001583	missense	2001				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34515223T>C	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.188A>G	11.37:g.34515223T>C	ENSP00000311010:p.Tyr63Cys		OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	ELF5_uc001mvp.1_Missense_Mutation_p.Y53C|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.Y53C	p.Y63C	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN			3	418	-		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	63			PNT.		A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Missense_Mutation	SNP	ENST00000312319.2	37	c.188A>G	CCDS7892.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793215	0.70452	.	.	ENSG00000135374	ENST00000257832;ENST00000312319;ENST00000532417	T;T;T	0.31510	1.49;1.49;1.49	4.57	4.57	0.56435	Sterile alpha motif/pointed domain (2);Pointed domain (3);	.	.	.	.	T	0.36635	0.0974	N	0.17082	0.46	0.42449	D	0.992742	D;D	0.76494	0.999;0.996	D;P	0.66979	0.948;0.864	T	0.23762	-1.0179	9	0.39692	T	0.17	.	13.9514	0.64118	0.0:0.0:0.0:1.0	.	53;63	Q9UKW6-3;Q9UKW6	.;ELF5_HUMAN	C	53;63;53	ENSP00000257832:Y53C;ENSP00000311010:Y63C;ENSP00000436386:Y53C	ENSP00000257832:Y53C	Y	-	2	0	ELF5	34471799	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.298000	0.59067	1.706000	0.51276	0.402000	0.26972	TAC		0.532	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381		5	29	0	0	0	0	5	29				
OR8I2	120586	broad.mit.edu	37	11	55861330	55861330	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:55861330C>A	ENST00000302124.2	+	1	578	c.547C>A	c.(547-549)Ctt>Att	p.L183I		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L183F(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438																																						uc010rix.1		NA																	1	Substitution - Missense(1)		skin(1)	breast(1)	1						c.(547-549)CTT>ATT		olfactory receptor, family 8, subfamily I,							152.0	141.0	145.0					11																	55861330		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861330C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.547C>A	11.37:g.55861330C>A	ENSP00000303864:p.Leu183Ile						p.L183I	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	547	+	Esophageal squamous(21;0.00693)		183			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.547C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074451	0.07184	.	.	ENSG00000172154	ENST00000302124	T	0.00069	8.77	4.33	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003003	T	0.00144	0.0004	L	0.37750	1.13	0.09310	N	1	B	0.27700	0.186	B	0.27500	0.08	T	0.29912	-0.9996	10	0.59425	D	0.04	-13.3861	8.563	0.33523	0.2585:0.601:0.1405:0.0	.	183	Q8N0Y5	OR8I2_HUMAN	I	183	ENSP00000303864:L183I	ENSP00000303864:L183I	L	+	1	0	OR8I2	55617906	0.000000	0.05858	0.805000	0.32314	0.087000	0.18053	-0.967000	0.03821	2.115000	0.64714	0.440000	0.28878	CTT		0.438	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		15	118	1	0	2.32e-05	2.6e-05	15	118				
HEPHL1	341208	broad.mit.edu	37	11	93778850	93778850	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:93778850T>G	ENST00000315765.9	+	2	190	c.182T>G	c.(181-183)tTa>tGa	p.L61*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	61	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTTGCAACCTTATTTCTCGAA	0.373																																						uc001pep.2		NA																	0				ovary(3)	3						c.(181-183)TTA>TGA		hephaestin-like 1 precursor							46.0	41.0	43.0					11																	93778850		1805	4070	5875	SO:0001587	stop_gained	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93778850T>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.182T>G	11.37:g.93778850T>G	ENSP00000313699:p.Leu61*						p.L61*	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			2	339	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	61			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Nonsense_Mutation	SNP	ENST00000315765.9	37	c.182T>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	35	5.425973	0.96131	.	.	ENSG00000181333	ENST00000315765	.	.	.	4.92	4.92	0.64577	.	0.402060	0.21976	N	0.066377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8589	0.70362	0.0:0.0:0.0:1.0	.	.	.	.	X	61	.	ENSP00000313699:L61X	L	+	2	0	HEPHL1	93418498	0.481000	0.25941	1.000000	0.80357	0.991000	0.79684	4.001000	0.57046	1.971000	0.57363	0.528000	0.53228	TTA		0.373	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		3	16	0	0	0	0	3	16				
KCNJ8	3764	broad.mit.edu	37	12	21926400	21926400	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:21926400G>A	ENST00000240662.2	-	2	496	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	51					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CCTTGCTCACGGATGTTCTTA	0.602											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rff.2		NA																	0					0						c.(151-153)CGT>TGT		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						137.0	117.0	124.0					12																	21926400		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21926400G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.151C>T	12.37:g.21926400G>A	ENSP00000240662:p.Arg51Cys		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.R51C	NM_004982	NP_004973	Q15842	IRK8_HUMAN			2	489	-			51			Cytoplasmic (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.151C>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169631	0.94768	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.96427	-4.01;-4.01	4.88	4.88	0.63580	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98760	1.0724	10	0.59425	D	0.04	.	18.2172	0.89890	0.0:0.0:1.0:0.0	.	51	Q15842	IRK8_HUMAN	C	51	ENSP00000240662:R51C;ENSP00000440012:R51C	ENSP00000240662:R51C	R	-	1	0	KCNJ8	21817667	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	9.640000	0.98453	2.531000	0.85337	0.591000	0.81541	CGT		0.602	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		12	73	0	0	0	0	12	73				
LARP4	113251	broad.mit.edu	37	12	50822793	50822793	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:50822793A>G	ENST00000398473.2	+	3	354	c.242A>G	c.(241-243)aAt>aGt	p.N81S	LARP4_ENST00000347328.5_Missense_Mutation_p.N81S|LARP4_ENST00000518444.1_Missense_Mutation_p.N80S|LARP4_ENST00000293618.8_Missense_Mutation_p.N81S|LARP4_ENST00000518561.1_Missense_Mutation_p.N11S|LARP4_ENST00000522085.1_Missense_Mutation_p.N81S|LARP4_ENST00000429001.3_Missense_Mutation_p.N87S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	81					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCACAAGAAATACTACAGGC	0.333																																						uc001rwp.1		NA																	0				ovary(1)	1						c.(241-243)AAT>AGT		c-Mpl binding protein isoform a							111.0	103.0	105.0					12																	50822793		1824	4084	5908	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50822793A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.242A>G	12.37:g.50822793A>G	ENSP00000381490:p.Asn81Ser					LARP4_uc001rwo.1_Missense_Mutation_p.N87S|LARP4_uc001rwq.1_Missense_Mutation_p.N81S|LARP4_uc001rwr.1_Missense_Mutation_p.N81S|LARP4_uc001rws.1_Missense_Mutation_p.N80S|LARP4_uc001rwm.2_Missense_Mutation_p.N81S|LARP4_uc001rwn.2_Missense_Mutation_p.N11S	p.N81S	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			3	386	+			81					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.242A>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118770	0.37436	.	.	ENSG00000161813	ENST00000550522;ENST00000293618;ENST00000429001;ENST00000548174;ENST00000548697;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000523389;ENST00000518561;ENST00000520064;ENST00000347328;ENST00000550260;ENST00000517559;ENST00000552445	T;T;T;T;T;T;T	0.46819	1.6;1.61;1.62;0.99;1.61;0.86;1.6	5.61	2.9	0.33743	.	0.271311	0.36665	N	0.002473	T	0.30479	0.0766	L	0.34521	1.04	0.31953	N	0.609365	B;B;B;B;B	0.25850	0.013;0.004;0.054;0.009;0.136	B;B;B;B;B	0.25506	0.016;0.011;0.061;0.018;0.044	T	0.27872	-1.0061	10	0.13853	T	0.58	.	7.454	0.27255	0.7405:0.1369:0.1226:0.0	.	80;81;81;81;87	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	S	11;81;87;89;11;11;81;11;81;81;80;81;11;11;80;81;80;11;11	ENSP00000293618:N81S;ENSP00000415464:N87S;ENSP00000381490:N81S;ENSP00000429781:N81S;ENSP00000429077:N80S;ENSP00000430851:N11S;ENSP00000340901:N81S	ENSP00000293618:N81S	N	+	2	0	LARP4	49109060	1.000000	0.71417	0.964000	0.40570	0.957000	0.61999	1.622000	0.36997	0.937000	0.37394	0.477000	0.44152	AAT		0.333	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		10	78	0	0	0	0	10	78				
OSBPL8	114882	broad.mit.edu	37	12	76750470	76750470	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:76750470T>C	ENST00000261183.3	-	23	2952	c.2473A>G	c.(2473-2475)Ata>Gta	p.I825V	OSBPL8_ENST00000393249.2_Missense_Mutation_p.I783V|OSBPL8_ENST00000393250.4_Missense_Mutation_p.I783V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	825					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCCAGTTCTATTCCTTTCTTT	0.294																																						uc001sye.1		NA																	0				ovary(1)	1						c.(2473-2475)ATA>GTA		oxysterol-binding protein-like protein 8 isoform							164.0	163.0	163.0					12																	76750470		2201	4300	6501	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76750470T>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2473A>G	12.37:g.76750470T>C	ENSP00000261183:p.Ile825Val					OSBPL8_uc001syf.1_Missense_Mutation_p.I783V|OSBPL8_uc001syg.1_Missense_Mutation_p.I783V	p.I825V	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			23	2953	-			825					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2473A>G	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	T	8.121	0.780890	0.16120	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.27720	1.65;1.65;1.65	5.76	3.37	0.38596	.	0.453085	0.25997	N	0.026978	T	0.11623	0.0283	N	0.04508	-0.205	0.26072	N	0.981208	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	10	0.23302	T	0.38	-10.6543	4.5824	0.12266	0.0:0.268:0.1599:0.5721	.	825	Q9BZF1	OSBL8_HUMAN	V	783;825;810;783	ENSP00000376939:I783V;ENSP00000261183:I825V;ENSP00000376940:I783V	ENSP00000261183:I825V	I	-	1	0	OSBPL8	75274601	0.128000	0.22383	0.999000	0.59377	0.997000	0.91878	0.065000	0.14466	1.110000	0.41699	0.533000	0.62120	ATA		0.294	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		12	70	0	0	0	0	12	70				
LCP1	3936	broad.mit.edu	37	13	46732708	46732708	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr13:46732708T>A	ENST00000398576.2	-	7	695	c.307A>T	c.(307-309)Atc>Ttc	p.I103F	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.I103F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	103					actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GTACCACCGATTGCACAAATC	0.423			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(307-309)ATC>TTC		L-plastin							179.0	161.0	167.0					13																	46732708		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46732708T>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.307A>T	13.37:g.46732708T>A	ENSP00000381581:p.Ile103Phe					LCP1_uc001vba.3_Missense_Mutation_p.I103F	p.I103F	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	4	433	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	103					B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.307A>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688987	0.29962	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	T;T;T	0.74421	-0.84;-0.84;0.27	5.62	4.4	0.53042	.	0.099721	0.64402	D	0.000002	T	0.63094	0.2482	L	0.32530	0.975	0.80722	D	1	P	0.41475	0.751	B	0.42282	0.382	T	0.57522	-0.7797	10	0.09590	T	0.72	-14.7315	12.1884	0.54254	0.0:0.0:0.1429:0.8571	.	103	P13796	PLSL_HUMAN	F	103	ENSP00000315757:I103F;ENSP00000381581:I103F;ENSP00000408052:I103F	ENSP00000315757:I103F	I	-	1	0	LCP1	45630709	0.997000	0.39634	0.013000	0.15412	0.552000	0.35366	2.985000	0.49362	1.023000	0.39654	0.533000	0.62120	ATC		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		20	65	0	0	0	0	20	65				
KIAA0391	9692	broad.mit.edu	37	14	35735973	35735973	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:35735973G>C	ENST00000557565.1	+	6	1697	c.1316G>C	c.(1315-1317)cGa>cCa	p.R439P	KIAA0391_ENST00000605870.1_Missense_Mutation_p.R67P|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R423P|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R423P|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R344P|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R344P|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R439P	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	439					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGGAATCTGCGACTGCTGGTC	0.478																																						uc001wsy.1		NA																	0					0						c.(1315-1317)CGA>CCA		mitochondrial RNase P protein 3 precursor							211.0	202.0	205.0					14																	35735973		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35735973G>C	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1316G>C	14.37:g.35735973G>C	ENSP00000454657:p.Arg439Pro					KIAA0391_uc010tps.1_Missense_Mutation_p.R344P|KIAA0391_uc001wsz.1_Missense_Mutation_p.R423P|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.R423P|KIAA0391_uc001wtc.1_Missense_Mutation_p.R67P	p.R439P	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	6	1676	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		439					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.1316G>C	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382594	0.61845	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.44083	0.97;0.93;0.93;0.95	5.62	-2.35	0.06684	.	0.671765	0.14512	N	0.315024	T	0.43853	0.1266	L	0.53249	1.67	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.52454	0.699;0.699	T	0.46359	-0.9197	10	0.23891	T	0.37	3.0067	12.2307	0.54486	0.4771:0.0:0.5229:0.0	.	423;439	O15091-2;O15091	.;MRRP3_HUMAN	P	344;344;423;439;423;67;67	ENSP00000250377:R344P;ENSP00000324697:R423P;ENSP00000440915:R439P;ENSP00000450898:R67P	ENSP00000250377:R344P	R	+	2	0	KIAA0391	34805724	0.002000	0.14202	0.011000	0.14972	0.964000	0.63967	0.182000	0.16900	-0.304000	0.08843	0.650000	0.86243	CGA		0.478	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		3	177	0	0	0	0	3	177				
INSM2	84684	broad.mit.edu	37	14	36004166	36004166	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:36004166C>T	ENST00000307169.3	+	1	919	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CATCCCCTGTCCTGGGCCTGA	0.662																																						uc001wth.1		NA																	0				lung(1)|skin(1)	2						c.(706-708)GTC>GTT		insulinoma-associated protein IA-6							21.0	24.0	23.0					14																	36004166		2107	4105	6212	SO:0001819	synonymous_variant	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004166C>T	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.708C>T	14.37:g.36004166C>T							p.V236V	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	919	+	Breast(36;0.122)|Hepatocellular(127;0.158)		236					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.708C>T	CCDS9657.1																																																																																				0.662	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			8	23	0	0	0	0	8	23				
PSMC1	5700	broad.mit.edu	37	14	90730032	90730032	+	Silent	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:90730032G>C	ENST00000261303.8	+	5	409	c.306G>C	c.(304-306)ctG>ctC	p.L102L	PSMC1_ENST00000543772.2_Silent_p.L29L	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGGATGATCTGAGGGGGACCC	0.443																																						uc001xyf.2		NA																	0					0						c.(304-306)CTG>CTC		proteasome 26S ATPase subunit 1							86.0	86.0	86.0					14																	90730032		2203	4300	6503	SO:0001819	synonymous_variant	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90730032G>C	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.306G>C	14.37:g.90730032G>C						PSMC1_uc001xyg.2_Silent_p.L29L|PSMC1_uc001xyh.2_Silent_p.L29L|PSMC1_uc010twh.1_Silent_p.L29L	p.L102L	NM_002802	NP_002793	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	354	+		all_cancers(154;0.142)	102					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Silent	SNP	ENST00000261303.8	37	c.306G>C	CCDS32139.1																																																																																				0.443	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		9	71	0	0	0	0	9	71				
MEIS2	4212	broad.mit.edu	37	15	37184422	37184422	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:37184422A>G	ENST00000561208.1	-	12	1804	c.1386T>C	c.(1384-1386)tcT>tcC	p.S462S	MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Silent_p.S455S|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Silent_p.S455S|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	462	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGGATCTACAGAATTTAACA	0.483																																						uc001zjr.2		NA																	0				ovary(2)	2						c.(1384-1386)TCT>TCC		Meis homeobox 2 isoform c							198.0	213.0	208.0					15																	37184422		2201	4297	6498	SO:0001819	synonymous_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37184422A>G	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1386T>C	15.37:g.37184422A>G						MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Silent_p.S442S|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Silent_p.S455S|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Silent_p.S455S|MEIS2_uc001zjj.2_Silent_p.S158S|MEIS2_uc001zjk.2_Silent_p.S151S	p.S462S	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	12	2423	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	462					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.1386T>C	CCDS10044.1																																																																																				0.483	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		46	300	0	0	0	0	46	300				
TNFAIP8L3	388121	broad.mit.edu	37	15	51397319	51397319	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:51397319C>G	ENST00000327536.5	-	1	154	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	19										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CCCTTTGGCTCTGCCTCACAG	0.512																																						uc001zyy.2		NA																	0					0						c.(55-57)GAG>CAG		tumor necrosis factor, alpha-induced protein							251.0	203.0	219.0					15																	51397319		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51397319C>G	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.55G>C	15.37:g.51397319C>G	ENSP00000328016:p.Glu19Gln						p.E19Q	NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	1	155	-			19					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.55G>C	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663136	0.29515	.	.	ENSG00000183578	ENST00000327536	T	0.29655	1.56	3.16	-1.12	0.09808	.	0.517115	0.14286	N	0.329219	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18335	-1.0340	10	0.87932	D	0	.	0.4829	0.00551	0.2027:0.3509:0.1982:0.2482	.	19	Q5GJ75	TP8L3_HUMAN	Q	19	ENSP00000328016:E19Q	ENSP00000328016:E19Q	E	-	1	0	TNFAIP8L3	49184611	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.132000	0.15891	-0.217000	0.10033	0.557000	0.71058	GAG		0.512	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		5	119	0	0	0	0	5	119				
SLTM	79811	broad.mit.edu	37	15	59186670	59186670	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:59186670G>A	ENST00000380516.2	-	10	1426	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLTM_ENST00000536328.1_Missense_Mutation_p.R16C|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	447	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCAGTGCGATGAAGATGT	0.413																																						uc002afp.2		NA																	0				ovary(1)	1						c.(1339-1341)CGC>TGC		modulator of estrogen induced transcription							154.0	141.0	145.0					15																	59186670		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186670G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1339C>T	15.37:g.59186670G>A	ENSP00000369887:p.Arg447Cys					SLTM_uc002afn.2_Missense_Mutation_p.R16C|SLTM_uc002afo.2_Missense_Mutation_p.R429C|SLTM_uc002afq.2_Missense_Mutation_p.R16C|SLTM_uc010bgd.2_Missense_Mutation_p.R16C	p.R447C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			10	1427	-			447			RRM.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1339C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751159	0.69533	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	T;T;T	0.74632	-0.86;-0.86;-0.86	5.96	5.04	0.67666	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000015	T	0.72260	0.3438	M	0.62723	1.935	0.80722	D	1	B;B	0.18013	0.017;0.025	B;B	0.12837	0.008;0.007	T	0.70890	-0.4749	10	0.87932	D	0	.	14.1877	0.65617	0.0:0.0:0.7276:0.2724	.	447;16	Q9NWH9;A8K5V8	SLTM_HUMAN;.	C	447;40;16;429	ENSP00000369887:R447C;ENSP00000411534:R40C;ENSP00000249736:R429C	ENSP00000249736:R429C	R	-	1	0	SLTM	56973962	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	4.539000	0.60657	1.501000	0.48654	0.650000	0.86243	CGC		0.413	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		7	105	0	0	0	0	7	105				
TBC1D2B	23102	broad.mit.edu	37	15	78322394	78322394	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:78322394T>C	ENST00000300584.3	-	4	801	c.802A>G	c.(802-804)Ata>Gta	p.I268V	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.I268V	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	268							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCCTGTACTATGGACTCCTCT	0.453																																						uc002bcy.3		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(802-804)ATA>GTA		TBC1 domain family, member 2B isoform a							130.0	100.0	110.0					15																	78322394		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78322394T>C	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.802A>G	15.37:g.78322394T>C	ENSP00000300584:p.Ile268Val					TBC1D2B_uc010bla.2_Missense_Mutation_p.I268V	p.I268V	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			4	802	-			268					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.802A>G	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	T	7.101	0.574017	0.13623	.	.	ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468	T;T;T	0.00627	6.12;6.12;6.12	5.18	-10.4	0.00318	.	1.038600	0.07500	N	0.907149	T	0.00468	0.0015	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41963	-0.9479	10	0.27082	T	0.32	.	6.7394	0.23426	0.0734:0.0947:0.2262:0.6057	.	268;268	Q9UPU7-2;Q9UPU7	.;TBD2B_HUMAN	V	268;268;156	ENSP00000387165:I268V;ENSP00000300584:I268V;ENSP00000413666:I156V	ENSP00000300584:I268V	I	-	1	0	TBC1D2B	76109449	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.999000	0.03697	-3.582000	0.00137	-1.488000	0.00978	ATA		0.453	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		9	71	0	0	0	0	9	71				
LONP2	83752	broad.mit.edu	37	16	48303932	48303932	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:48303932C>G	ENST00000285737.4	+	7	1081	c.988C>G	c.(988-990)Ctg>Gtg	p.L330V	LONP2_ENST00000535754.1_Missense_Mutation_p.L286V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACAGACCGCCTGGACATTAG	0.378																																						uc002efi.1		NA																	0					0						c.(988-990)CTG>GTG		peroxisomal LON protease-like							56.0	56.0	56.0					16																	48303932		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48303932C>G	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.988C>G	16.37:g.48303932C>G	ENSP00000285737:p.Leu330Val					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.L286V	p.L330V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			7	1077	+			330						Missense_Mutation	SNP	ENST00000285737.4	37	c.988C>G	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709331	0.68615	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.39787	1.06;1.06;1.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.63169	1.94	0.51012	D	0.999907	P;P	0.43826	0.779;0.818	B;B	0.41723	0.293;0.365	T	0.42224	-0.9464	10	0.51188	T	0.08	-14.2257	12.9799	0.58557	0.0:0.9264:0.0:0.0736	.	286;330	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	330;59;286;286	ENSP00000285737:L330V;ENSP00000445426:L286V;ENSP00000415983:L286V	ENSP00000285737:L330V	L	+	1	2	LONP2	46861433	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.685000	0.37659	2.653000	0.90120	0.655000	0.94253	CTG		0.378	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		8	42	0	0	0	0	8	42				
ZNF276	92822	broad.mit.edu	37	16	89804234	89804234	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:89804234G>C	ENST00000443381.2	+	10	1592	c.1495G>C	c.(1495-1497)Gac>Cac	p.D499H	ZNF276_ENST00000289816.5_Missense_Mutation_p.D424H|ZNF276_ENST00000568064.1_Missense_Mutation_p.D407H|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.D285H	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTATATCTGTGACGAATGTGG	0.557																																						uc002fos.3		NA																	0					0						c.(1495-1497)GAC>CAC		zinc finger protein 276 isoform a							124.0	112.0	116.0					16																	89804234		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804234G>C	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1495G>C	16.37:g.89804234G>C	ENSP00000415836:p.Asp499His					ZNF276_uc010ciq.2_Missense_Mutation_p.D285H|ZNF276_uc002fop.2_Missense_Mutation_p.D407H|ZNF276_uc002foq.3_Missense_Mutation_p.D424H|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.D285H|ZNF276_uc010cis.2_Missense_Mutation_p.D258H|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.D337H|ZNF276_uc010cit.1_Missense_Mutation_p.D258H|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	p.D499H	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	10	1592	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	499			C2H2-type 3.		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1495G>C	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578934	0.65878	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.48522	0.81;0.81;0.81	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.72576	2.205	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;0.998	T	0.71998	-0.4423	10	0.87932	D	0	-24.3839	18.6521	0.91433	0.0:0.0:1.0:0.0	.	337;499;285;424	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	H	285;424;499	ENSP00000415999:D285H;ENSP00000289816:D424H;ENSP00000415836:D499H	ENSP00000289816:D424H	D	+	1	0	ZNF276	88331735	1.000000	0.71417	0.998000	0.56505	0.159000	0.22180	9.247000	0.95444	2.650000	0.89964	0.555000	0.69702	GAC		0.557	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		3	72	0	0	0	0	3	72				
POLR2A	5430	broad.mit.edu	37	17	7416619	7416619	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7416619C>T	ENST00000322644.6	+	29	5435	c.5036C>T	c.(5035-5037)tCa>tTa	p.S1679L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1679	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cccagctactcacccacttcc	0.617																																						uc002ghf.3		NA																	0				pancreas(1)	1						c.(5035-5037)TCA>TTA		DNA-directed RNA polymerase II A							304.0	259.0	274.0					17																	7416619		2202	4291	6493	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416619C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5036C>T	17.37:g.7416619C>T	ENSP00000314949:p.Ser1679Leu						p.S1679L	NM_000937	NP_000928	P24928	RPB1_HUMAN			29	5270	+		Prostate(122;0.173)	1679			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].|13.		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5036C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931163	0.18131	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.73575	-0.76	3.64	2.66	0.31614	.	0.000000	0.34046	U	0.004312	T	0.76528	0.4000	M	0.92367	3.3	0.41162	D	0.986101	B	0.06786	0.001	B	0.04013	0.001	T	0.75451	-0.3313	10	0.87932	D	0	-6.529	6.5935	0.22659	0.0:0.7142:0.1822:0.1037	.	1679	P24928	RPB1_HUMAN	L	1635;578;1679	ENSP00000314949:S1679L	ENSP00000314949:S1679L	S	+	2	0	SLC35G6	7357343	0.939000	0.31865	0.260000	0.24451	0.151000	0.21798	2.030000	0.41108	0.868000	0.35678	0.456000	0.33151	TCA		0.617	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	13	0	0	0	0	3	13				
CHD3	1107	broad.mit.edu	37	17	7806800	7806800	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7806800C>G	ENST00000330494.7	+	23	3856	c.3706C>G	c.(3706-3708)Cta>Gta	p.L1236V	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000380358.4_Missense_Mutation_p.L1295V|CHD3_ENST00000358181.4_Missense_Mutation_p.L1236V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1236					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACTGAAGAGCTATTCAAGGA	0.542																																						uc002gje.2		NA																	0				breast(1)	1						c.(3706-3708)CTA>GTA		chromodomain helicase DNA binding protein 3							28.0	31.0	30.0					17																	7806800		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806800C>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3706C>G	17.37:g.7806800C>G	ENSP00000332628:p.Leu1236Val					CHD3_uc002gjd.2_Missense_Mutation_p.L1295V|CHD3_uc002gjf.2_Missense_Mutation_p.L1236V|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank	p.L1236V	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			23	3856	+		Prostate(122;0.202)	1236					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3706C>G	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972961	0.53614	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.96168	-3.93;-3.93;-3.93	4.9	3.93	0.45458	.	0.000000	0.35291	N	0.003309	D	0.96516	0.8863	L	0.56280	1.765	0.80722	D	1	D;D;D	0.69078	0.996;0.993;0.997	D;D;D	0.75484	0.986;0.967;0.978	D	0.96555	0.9411	10	0.66056	D	0.02	-9.8843	13.0342	0.58860	0.0:0.9222:0.0:0.0778	.	1236;1236;1295	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	1295;1236;1236	ENSP00000369716:L1295V;ENSP00000350907:L1236V;ENSP00000332628:L1236V	ENSP00000332628:L1236V	L	+	1	2	CHD3	7747525	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.651000	0.54431	1.274000	0.44362	0.491000	0.48974	CTA		0.542	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	16	0	0	0	0	7	16				
MYH10	4628	broad.mit.edu	37	17	8526560	8526560	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:8526560G>C	ENST00000269243.4	-	2	143	c.5C>G	c.(4-6)gCg>gGg	p.A2G	MYH10_ENST00000379980.4_Missense_Mutation_p.A2G|MYH10_ENST00000360416.3_Missense_Mutation_p.A2G|MYH10_ENST00000396239.1_Missense_Mutation_p.A2G	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	2					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGTTCTCTGCGCCATTGTAAA	0.433																																						uc002gll.2		NA																	0				ovary(2)	2						c.(4-6)GCG>GGG		myosin, heavy polypeptide 10, non-muscle							40.0	37.0	38.0					17																	8526560		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526560G>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5C>G	17.37:g.8526560G>C	ENSP00000269243:p.Ala2Gly					MYH10_uc002glm.2_Missense_Mutation_p.A2G|MYH10_uc010cnx.2_Missense_Mutation_p.A2G	p.A2G	NM_005964	NP_005955	P35580	MYH10_HUMAN			2	101	-			2			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5C>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.750965	0.69533	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;T	0.86230	-2.07;-2.09;-2.09;-2.06;-1.35	4.92	4.92	0.64577	.	0.133962	0.51477	D	0.000100	T	0.80237	0.4586	N	0.08118	0	0.49299	D	0.999771	B;B;B	0.29378	0.157;0.243;0.157	B;B;B	0.36666	0.115;0.23;0.115	T	0.80917	-0.1168	10	0.87932	D	0	.	17.9243	0.88977	0.0:0.0:1.0:0.0	.	2;2;2	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	G	2	ENSP00000269243:A2G;ENSP00000353590:A2G;ENSP00000379539:A2G;ENSP00000369315:A2G;ENSP00000408220:A2G	ENSP00000269243:A2G	A	-	2	0	MYH10	8467285	1.000000	0.71417	0.965000	0.40720	0.861000	0.49209	8.913000	0.92730	2.554000	0.86153	0.561000	0.74099	GCG		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			4	50	0	0	0	0	4	50				
ABCC3	8714	broad.mit.edu	37	17	48755277	48755277	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:48755277G>T	ENST00000285238.8	+	24	3631	c.3551G>T	c.(3550-3552)aGc>aTc	p.S1184I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1184	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AACCAGAGAAGCTGCTACCCC	0.567																																						uc002isl.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(3550-3552)AGC>ATC		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						90.0	96.0	94.0					17																	48755277		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48755277G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3551G>T	17.37:g.48755277G>T	ENSP00000285238:p.Ser1184Ile					ABCC3_uc002isn.2_5'Flank	p.S1184I	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		24	3631	+			1184			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3551G>T	CCDS32681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.01|18.01	3.528355|3.528355	0.64860|0.64860	.|.	.|.	ENSG00000108846|ENSG00000108846	ENST00000513745|ENST00000285238	.|D	.|0.89485	.|-2.52	5.61|5.61	5.61|5.61	0.85477|0.85477	.|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|D	0.93439|0.93439	0.7907|0.7907	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.63381	.|0.914	D|D	0.92913|0.92913	0.6349|0.6349	5|10	.|0.49607	.|T	.|0.09	-31.1795|-31.1795	19.6204|19.6204	0.95653|0.95653	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1184	.|O15438	.|MRP3_HUMAN	N|I	287|1184	.|ENSP00000285238:S1184I	.|ENSP00000285238:S1184I	K|S	+|+	3|2	2|0	ABCC3|ABCC3	46110276|46110276	1.000000|1.000000	0.71417|0.71417	0.387000|0.387000	0.26183|0.26183	0.414000|0.414000	0.31173|0.31173	4.715000|4.715000	0.61909|0.61909	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.567	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	121	1	0	0.000602214	0.000662436	5	121				
DGKE	8526	broad.mit.edu	37	17	54923105	54923105	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:54923105C>A	ENST00000284061.3	+	4	859	c.679C>A	c.(679-681)Cgt>Agt	p.R227S	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	227	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGCCAACTCTCGTAGTGGAAC	0.363																																						uc002iur.2		NA																	0				breast(2)	2						c.(679-681)CGT>AGT		diacylglycerol kinase epsilon							86.0	87.0	87.0					17																	54923105		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54923105C>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.679C>A	17.37:g.54923105C>A	ENSP00000284061:p.Arg227Ser					DGKE_uc002ius.1_Missense_Mutation_p.R227S	p.R227S	NM_003647	NP_003638	P52429	DGKE_HUMAN			4	859	+	Breast(9;3.59e-07)		227			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.679C>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467713	0.84533	.	.	ENSG00000153933	ENST00000284061	T	0.21361	2.01	5.5	5.5	0.81552	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.43152	1.355	0.80722	D	1	P;P	0.47962	0.903;0.903	P;P	0.61940	0.896;0.896	T	0.08310	-1.0728	10	0.66056	D	0.02	.	19.3976	0.94612	0.0:1.0:0.0:0.0	.	227;227	A1L4Q0;P52429	.;DGKE_HUMAN	S	227	ENSP00000284061:R227S	ENSP00000284061:R227S	R	+	1	0	DGKE	52278104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.349000	0.66010	2.575000	0.86900	0.650000	0.86243	CGT		0.363	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		3	71	1	0	0.00909568	0.00972732	3	71				
EVI5L	115704	broad.mit.edu	37	19	7914195	7914195	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:7914195C>T	ENST00000270530.4	+	5	802	c.606C>T	c.(604-606)atC>atT	p.I202I	EVI5L_ENST00000538904.2_Silent_p.I202I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	202	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCCTTCATCGTGGGCCTGC	0.647																																						uc002min.2		NA																	0				ovary(1)	1						c.(604-606)ATC>ATT		ecotropic viral integration site 5-like isoform							65.0	58.0	60.0					19																	7914195		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7914195C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.606C>T	19.37:g.7914195C>T						EVI5L_uc010xjz.1_Silent_p.I202I|EVI5L_uc002mio.1_5'Flank	p.I202I	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			5	760	+			202			Rab-GAP TBC.		B9A6I9	Silent	SNP	ENST00000270530.4	37	c.606C>T	CCDS12188.1																																																																																				0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		4	46	0	0	0	0	4	46				
CACNA1A	773	broad.mit.edu	37	19	13423556	13423556	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:13423556T>C	ENST00000360228.5	-	12	1594	c.1595A>G	c.(1594-1596)gAa>gGa	p.E532G	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TATAAACATTTCGGACATAAA	0.458																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(1597-1599)GAA>GGA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						76.0	73.0	74.0					19																	13423556		1849	4098	5947	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423556T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1595A>G	19.37:g.13423556T>C	ENSP00000353362:p.Glu532Gly					CACNA1A_uc010dzc.2_Missense_Mutation_p.E58G|CACNA1A_uc002mwy.3_Missense_Mutation_p.E532G|CACNA1A_uc010xne.1_Missense_Mutation_p.E58G	p.E533G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1834	-			533			Helical; Name=S2 of repeat II; (Potential).|II.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1598A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629631	0.67015	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98835	-5.17	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.98111	4.15	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.997;0.992	D	0.98126	1.0428	10	0.87932	D	0	.	14.187	0.65612	0.0:0.0:0.0:1.0	.	533;533;532	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	G	532;533;533;533	ENSP00000353362:E532G	ENSP00000317661:E533G	E	-	2	0	CACNA1A	13284556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.047000	0.60756	0.528000	0.53228	GAA		0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	48	0	0	0	0	3	48				
KIRREL2	84063	broad.mit.edu	37	19	36353394	36353394	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:36353394G>T	ENST00000360202.5	+	12	1708		c.e12-1		KIRREL2_ENST00000592409.1_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site|KIRREL2_ENST00000262625.7_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTCCCTGCAGACTTGCTGCC	0.617																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e12-1		kin of IRRE-like 2 isoform c							116.0	118.0	117.0					19																	36353394		2203	4300	6503	SO:0001630	splice_region_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36353394G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1511-1G>T	19.37:g.36353394G>T						KIRREL2_uc002obz.3_Splice_Site_p.D504_splice|KIRREL2_uc002oca.3_Splice_Site_p.D454_splice|KIRREL2_uc002occ.3_Splice_Site_p.D451_splice|KIRREL2_uc002ocd.3_Intron	p.D504_splice	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1723	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)							C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	37	c.1511_splice	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372806	0.42003	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2695	0.54697	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL2	41045234	1.000000	0.71417	0.419000	0.26584	0.541000	0.35023	5.143000	0.64826	2.287000	0.76781	0.491000	0.48974	.		0.617	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Intron	20	136	1	0	3.62e-10	4.23e-10	20	136				
LAIR1	3903	broad.mit.edu	37	19	54867583	54867583	+	Missense_Mutation	SNP	C	C	T	rs184253479		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:54867583C>T	ENST00000391742.2	-	9	849	c.697G>A	c.(697-699)Gac>Aac	p.D233N	LAIR1_ENST00000313038.6_Missense_Mutation_p.D226N|LAIR1_ENST00000348231.4_Missense_Mutation_p.D216N|LAIR1_ENST00000391743.3_Missense_Mutation_p.D215N|LAIR1_ENST00000434277.2_Missense_Mutation_p.D232N|LAIR1_ENST00000474878.1_Missense_Mutation_p.D215N|LAIR1_ENST00000463489.1_5'Flank|CTD-2587H19.1_ENST00000596234.1_lincRNA			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	233					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTCTCTCTGTCCTTCTCAGGA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17308	0.0		0.0	False		,,,				2504	0.0					uc002qfk.1		NA																	0				ovary(4)	4						c.(697-699)GAC>AAC		leukocyte-associated immunoglobulin-like							131.0	128.0	129.0					19																	54867583		2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54867583C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.697G>A	19.37:g.54867583C>T	ENSP00000375622:p.Asp233Asn					LAIR1_uc002qfl.1_Missense_Mutation_p.D216N|LAIR1_uc002qfm.1_Missense_Mutation_p.D232N|LAIR1_uc002qfn.1_Missense_Mutation_p.D215N|LAIR1_uc010yex.1_Missense_Mutation_p.D226N|LAIR1_uc002qfo.2_Missense_Mutation_p.D215N	p.D233N	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	9	1007	-	Ovarian(34;0.19)		233			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000391742.2	37	c.697G>A	CCDS12891.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	15.95	2.984155	0.53827	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.00515	6.87;6.95;6.99;7.01;6.93;7.0	3.13	0.923	0.19413	.	0.356781	0.20403	N	0.093010	T	0.00695	0.0023	L	0.46741	1.465	0.09310	N	1	D;D;P;P;D	0.65815	0.991;0.995;0.799;0.762;0.991	P;P;B;B;P	0.56474	0.634;0.799;0.295;0.239;0.634	T	0.54846	-0.8232	10	0.42905	T	0.14	.	5.6213	0.17459	0.0:0.7367:0.0:0.2633	.	215;215;232;216;233	A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;LAIR1_HUMAN	N	215;233;232;216;226;215	ENSP00000375623:D215N;ENSP00000375622:D233N;ENSP00000391003:D232N;ENSP00000301193:D216N;ENSP00000319204:D226N;ENSP00000418998:D215N	ENSP00000319204:D226N	D	-	1	0	LAIR1	59559395	0.002000	0.14202	0.007000	0.13788	0.418000	0.31294	0.299000	0.19138	0.341000	0.23771	0.561000	0.74099	GAC		0.473	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			20	100	0	0	0	0	20	100				
LILRB1	10859	broad.mit.edu	37	19	55143590	55143590	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:55143590G>T	ENST00000396331.1	+	6	920	c.563G>T	c.(562-564)aGc>aTc	p.S188I	AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396315.1_Missense_Mutation_p.S188I|LILRB1_ENST00000418536.2_Missense_Mutation_p.S188I|LILRB1_ENST00000396317.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396327.3_Missense_Mutation_p.S188I|LILRB1_ENST00000396321.2_Missense_Mutation_p.S188I|LILRB1_ENST00000434867.2_Missense_Mutation_p.S188I|LILRB1_ENST00000324602.7_Missense_Mutation_p.S188I|LILRB1_ENST00000396332.4_Missense_Mutation_p.S188I|LILRB1_ENST00000427581.2_Missense_Mutation_p.S224I|LILRB1_ENST00000448689.1_Missense_Mutation_p.S188I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	188	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCCGTGAGCCCGAGTCGC	0.587										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(562-564)AGC>ATC		leukocyte immunoglobulin-like receptor,							137.0	135.0	136.0					19																	55143590		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143590G>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.563G>T	19.37:g.55143590G>T	ENSP00000379622:p.Ser188Ile	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.S188I|LILRB1_uc002qgk.2_Missense_Mutation_p.S188I|LILRB1_uc002qgm.2_Missense_Mutation_p.S188I|LILRB1_uc010erq.2_Missense_Mutation_p.S188I|LILRB1_uc010err.2_RNA	p.S188I	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	903	+			188			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.563G>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057409	0.19907	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87	1.57	-3.14	0.05250	Immunoglobulin-like fold (1);	1.033330	0.07677	N	0.936381	T	0.06142	0.0159	M	0.81614	2.55	0.09310	N	1	P;B;B;B;P	0.38473	0.633;0.195;0.211;0.177;0.587	B;B;B;B;B	0.37731	0.22;0.167;0.133;0.081;0.257	T	0.21348	-1.0248	10	0.66056	D	0.02	.	4.2202	0.10554	0.0:0.3463:0.4757:0.178	.	188;188;188;188;188	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	I	188;188;188;188;188;188;188;188;224;188;188	ENSP00000379614:S188I;ENSP00000391514:S188I;ENSP00000409968:S188I;ENSP00000379622:S188I;ENSP00000379618:S188I;ENSP00000315997:S188I;ENSP00000405243:S188I;ENSP00000379623:S188I;ENSP00000395004:S224I;ENSP00000379610:S188I;ENSP00000379608:S188I	ENSP00000315997:S188I	S	+	2	0	LILRB1	59835402	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.983000	0.03759	-0.694000	0.05113	0.184000	0.17185	AGC		0.587	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			22	159	1	0	3.6e-14	4.24e-14	22	159				
TRABD2A	129293	broad.mit.edu	37	2	85051178	85051178	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:85051178C>T	ENST00000409520.2	-	6	1275	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	TRABD2A_ENST00000335459.5_Silent_p.T362T|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	411					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CCTCACTGGGCGTGTCGGCAC	0.642																																						uc010ysl.1		NA																	0				ovary(1)	1						c.(1231-1233)ACG>ACA		hypothetical protein LOC129293 precursor							44.0	49.0	47.0					2																	85051178		2198	4297	6495	SO:0001819	synonymous_variant	129293					integral to membrane		g.chr2:85051178C>T	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1233G>A	2.37:g.85051178C>T						C2orf89_uc002sou.3_Silent_p.T362T	p.T411T	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			6	1322	-			411			Extracellular (Potential).		B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.1233G>A																																																																																					0.642	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		6	25	0	0	0	0	6	25				
POLR1A	25885	broad.mit.edu	37	2	86258685	86258685	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:86258685C>T	ENST00000263857.6	-	30	4724	c.4346G>A	c.(4345-4347)cGa>cAa	p.R1449Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1449Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1449					gene expression (GO:0010467)|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 initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGGATTTCGTtcctcctg	0.577																																						uc002sqs.2		NA																	0				ovary(2)|skin(1)	3						c.(4345-4347)CGA>CAA		DNA-directed RNA polymerase I A							171.0	172.0	172.0					2																	86258685		2138	4232	6370	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258685C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4346G>A	2.37:g.86258685C>T	ENSP00000263857:p.Arg1449Gln					POLR1A_uc010ytb.1_Missense_Mutation_p.R815Q	p.R1449Q	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4725	-			1449					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4346G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409889	0.25465	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65549	-0.16;3.29	4.39	1.54	0.23209	RNA polymerase Rpb1, domain 5 (1);	2.038040	0.01705	N	0.027407	T	0.37073	0.0990	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.30208	-0.9986	10	0.16420	T	0.52	-11.3218	8.3032	0.32027	0.0:0.7161:0.0:0.2839	.	1449	O95602	RPA1_HUMAN	Q	1449	ENSP00000263857:R1449Q;ENSP00000386300:R1449Q	ENSP00000263857:R1449Q	R	-	2	0	POLR1A	86112196	0.013000	0.17824	0.149000	0.22428	0.023000	0.10783	0.126000	0.15769	0.565000	0.29255	0.555000	0.69702	CGA		0.577	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		12	78	0	0	0	0	12	78				
IL1R2	7850	broad.mit.edu	37	2	102642600	102642600	+	Silent	SNP	C	C	T	rs200467327		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:102642600C>T	ENST00000332549.3	+	8	1144	c.915C>T	c.(913-915)taC>taT	p.Y305Y	IL1R2_ENST00000393414.2_Silent_p.Y305Y|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	305	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATGAGAACTACATTGAAGTGC	0.338																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2		NA																	0				ovary(1)|breast(1)	2						c.(913-915)TAC>TAT		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						109.0	107.0	108.0					2																	102642600		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102642600C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.915C>T	2.37:g.102642600C>T						IL1R2_uc002tbn.2_Silent_p.Y305Y	p.Y305Y	NM_004633	NP_004624	P27930	IL1R2_HUMAN			8	1144	+			305			Extracellular (Potential).|Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.915C>T	CCDS2054.1																																																																																				0.338	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		7	64	0	0	0	0	7	64				
NOP58	51602	broad.mit.edu	37	2	203168128	203168128	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203168128A>G	ENST00000264279.5	+	15	1785	c.1559A>G	c.(1558-1560)aAa>aGa	p.K520R		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	520	Lys-rich.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						aaaaagaagaaaaagaaaaaa	0.368																																						uc002uzb.2		NA																	0					0						c.(1558-1560)AAA>AGA		NOP58 ribonucleoprotein homolog							46.0	53.0	51.0					2																	203168128		2194	4297	6491	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203168128A>G		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1559A>G	2.37:g.203168128A>G	ENSP00000264279:p.Lys520Arg						p.K520R	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN			15	1709	+			520			Lys-rich.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.1559A>G	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193838	0.58017	.	.	ENSG00000055044	ENST00000264279	T	0.64803	-0.12	5.39	5.39	0.77823	.	0.047154	0.85682	D	0.000000	T	0.36248	0.0960	N	0.08118	0	0.44595	D	0.997567	P	0.37781	0.608	B	0.21917	0.037	T	0.47018	-0.9149	10	0.66056	D	0.02	-14.1538	11.7306	0.51735	1.0:0.0:0.0:0.0	.	520	Q9Y2X3	NOP58_HUMAN	R	520	ENSP00000264279:K520R	ENSP00000264279:K520R	K	+	2	0	NOP58	202876373	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.838000	0.55828	2.267000	0.75376	0.528000	0.53228	AAA		0.368	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		10	57	0	0	0	0	10	57				
WDR12	55759	broad.mit.edu	37	2	203764342	203764342	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203764342C>G	ENST00000261015.4	-	4	999	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCACGTATTCTATTTCCACA	0.393																																						uc002uzl.2		NA																	0					0						c.(250-252)GAA>CAA		WD repeat domain 12 protein							110.0	98.0	102.0					2																	203764342		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203764342C>G	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.250G>C	2.37:g.203764342C>G	ENSP00000261015:p.Glu84Gln					WDR12_uc010ftt.2_Missense_Mutation_p.E84Q	p.E84Q	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			4	1000	-			84						Missense_Mutation	SNP	ENST00000261015.4	37	c.250G>C	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902556	0.92035	.	.	ENSG00000138442	ENST00000261015	T	0.60797	0.16	5.48	5.48	0.80851	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.74546	2.27	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	T	0.71234	-0.4653	10	0.28530	T	0.3	-20.894	19.343	0.94352	0.0:1.0:0.0:0.0	.	84;84	Q53T99;Q9GZL7	.;WDR12_HUMAN	Q	84	ENSP00000261015:E84Q	ENSP00000261015:E84Q	E	-	1	0	WDR12	203472587	1.000000	0.71417	0.989000	0.46669	0.802000	0.45316	7.651000	0.83577	2.572000	0.86782	0.491000	0.48974	GAA		0.393	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		4	72	0	0	0	0	4	72				
SH3BP4	23677	broad.mit.edu	37	2	235949576	235949576	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:235949576G>A	ENST00000409212.1	+	4	670	c.163G>A	c.(163-165)Gga>Aga	p.G55R	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G55R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G55R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	55	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CACACCTTTCGGAAATGCAAA	0.532																																						uc002vvp.2		NA																	0				skin(3)|ovary(1)	4						c.(163-165)GGA>AGA		SH3-domain binding protein 4							124.0	122.0	123.0					2																	235949576		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949576G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.163G>A	2.37:g.235949576G>A	ENSP00000386862:p.Gly55Arg					SH3BP4_uc010fym.2_Missense_Mutation_p.G55R|SH3BP4_uc002vvq.2_Missense_Mutation_p.G55R	p.G55R	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	556	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	55			SH3.		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.163G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896388	0.72639	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.44	5.44	0.79542	Src homology-3 domain (2);	0.052179	0.85682	D	0.000000	T	0.41236	0.1150	M	0.73217	2.22	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.45232	0.474;0.474	T	0.47249	-0.9132	10	0.72032	D	0.01	-14.7956	17.8307	0.88682	0.0:0.0:1.0:0.0	.	55;55	A8K594;Q9P0V3	.;SH3B4_HUMAN	R	55	ENSP00000375867:G55R;ENSP00000403251:G55R;ENSP00000386862:G55R;ENSP00000340237:G55R;ENSP00000415391:G55R	ENSP00000340237:G55R	G	+	1	0	SH3BP4	235614315	1.000000	0.71417	0.099000	0.21106	0.227000	0.25037	7.698000	0.84413	2.549000	0.85964	0.655000	0.94253	GGA		0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			31	157	0	0	0	0	31	157				
AGAP1	116987	broad.mit.edu	37	2	236659046	236659046	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:236659046G>A	ENST00000304032.8	+	6	1167	c.587G>A	c.(586-588)aGg>aAg	p.R196K	AGAP1_ENST00000409538.1_Missense_Mutation_p.R461K|AGAP1_ENST00000428334.2_Missense_Mutation_p.R35K|AGAP1_ENST00000409457.1_Missense_Mutation_p.R196K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R196K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	196	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCAGGGCGAGGAAGCTCTCC	0.527																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(586-588)AGG>AAG		centaurin, gamma 2 isoform 1							270.0	216.0	234.0					2																	236659046		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659046G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.587G>A	2.37:g.236659046G>A	ENSP00000307634:p.Arg196Lys					AGAP1_uc002vvt.2_Missense_Mutation_p.R196K	p.R196K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			6	1182	+			196			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.587G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490247	0.84962	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.3	5.3	0.74995	.	0.075859	0.49916	D	0.000131	T	0.56587	0.1995	L	0.60067	1.865	0.58432	D	0.999999	P;P	0.51653	0.735;0.947	P;D	0.63283	0.591;0.913	T	0.53885	-0.8375	10	0.49607	T	0.09	.	19.3124	0.94195	0.0:0.0:1.0:0.0	.	196;196	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	K	196;196;196;461;35	ENSP00000387174:R196K;ENSP00000307634:R196K;ENSP00000338378:R196K;ENSP00000386897:R461K;ENSP00000411824:R35K	ENSP00000307634:R196K	R	+	2	0	AGAP1	236323785	1.000000	0.71417	0.965000	0.40720	0.683000	0.39861	9.548000	0.98103	2.650000	0.89964	0.655000	0.94253	AGG		0.527	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		34	136	0	0	0	0	34	136				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						uc002wts.2		NA																	6	Substitution - Missense(6)		lung(4)|NS(2)	ovary(1)	1						c.(91-93)ATG>ACG		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_uc002wtu.2_Missense_Mutation_p.M31T	p.M31T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			2	225	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		4	68	0	0	0	0	4	68				
RIMS4	140730	broad.mit.edu	37	20	43378790	43378790	+	IGR	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:43378790G>C	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.G102R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CGCCGCGCCGGGTACGGACTC	0.682																																						uc002xmr.2		NA																	0					0						c.(304-306)GGT>CGT		potassium family, subfamily K, member 15							30.0	27.0	28.0					20																	43378790		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378790G>C		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378790G>C							p.G102R	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	368	+		Myeloproliferative disorder(115;0.0122)	102					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.304G>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130537	0.56828	.	.	ENSG00000124249	ENST00000372861	D	0.97256	-4.31	4.14	4.14	0.48551	Ion transport 2 (1);	0.063724	0.64402	U	0.000009	D	0.92192	0.7524	N	0.02120	-0.675	0.53005	D	0.999962	P	0.43701	0.815	P	0.50109	0.631	D	0.91075	0.4895	10	0.12430	T	0.62	.	16.6191	0.84925	0.0:0.0:1.0:0.0	.	102	Q9H427	KCNKF_HUMAN	R	102	ENSP00000361952:G102R	ENSP00000361952:G102R	G	+	1	0	KCNK15	42812204	1.000000	0.71417	0.996000	0.52242	0.637000	0.38172	3.744000	0.55112	2.133000	0.65898	0.561000	0.74099	GGT		0.682	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		3	18	0	0	0	0	3	18				
SLC2A10	81031	broad.mit.edu	37	20	45353758	45353758	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:45353758T>C	ENST00000359271.2	+	2	333	c.83T>C	c.(82-84)gTc>gCc	p.V28A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	28					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GAACTGGCAGTCATATCAGGT	0.577																																						uc002xsl.2		NA																	0				ovary(1)	1						c.(82-84)GTC>GCC		solute carrier family 2 member 10							134.0	113.0	120.0					20																	45353758		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45353758T>C	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.83T>C	20.37:g.45353758T>C	ENSP00000352216:p.Val28Ala						p.V28A	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	180	+		Myeloproliferative disorder(115;0.0122)	28			Helical; Name=1; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.83T>C	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813221	0.70912	.	.	ENSG00000197496	ENST00000359271	T	0.77229	-1.08	4.38	4.38	0.52667	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.208574	0.37530	N	0.002055	T	0.77545	0.4146	L	0.61036	1.89	0.42318	D	0.992249	P	0.42456	0.78	B	0.43301	0.415	T	0.81607	-0.0856	10	0.87932	D	0	.	13.8685	0.63603	0.0:0.0:0.0:1.0	.	28	O95528	GTR10_HUMAN	A	28	ENSP00000352216:V28A	ENSP00000352216:V28A	V	+	2	0	SLC2A10	44787165	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	7.875000	0.87205	1.743000	0.51761	0.164000	0.16699	GTC		0.577	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			9	96	0	0	0	0	9	96				
TSSK2	23617	broad.mit.edu	37	22	19119322	19119322	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:19119322T>C	ENST00000399635.2	+	1	1002	c.410T>C	c.(409-411)cTc>cCc	p.L137P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CACCGGGACCTCAAGTGCGAG	0.592																																						uc002zow.2		NA																	0				stomach(1)	1						c.(409-411)CTC>CCC		testis-specific serine kinase 2							136.0	113.0	121.0					22																	19119322		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119322T>C	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.410T>C	22.37:g.19119322T>C	ENSP00000382544:p.Leu137Pro					DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.L137P	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	1002	+	Colorectal(54;0.0993)		137			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.410T>C	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079833	0.76528	.	.	ENSG00000206203	ENST00000399635	D	0.89810	-2.57	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000286	D	0.96636	0.8902	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98041	1.0382	10	0.87932	D	0	.	14.5657	0.68173	0.0:0.0:0.0:1.0	.	137	Q96PF2	TSSK2_HUMAN	P	137	ENSP00000382544:L137P	ENSP00000382544:L137P	L	+	2	0	TSSK2	17499322	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.590000	0.82653	2.082000	0.62665	0.533000	0.62120	CTC		0.592	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			3	85	0	0	0	0	3	85				
XPNPEP3	63929	broad.mit.edu	37	22	41265050	41265050	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:41265050G>C	ENST00000357137.4	+	2	196	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.E38Q|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.E38Q|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.E15Q	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	38					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GCCTGTCCCAGAAAGGAGGAT	0.458																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2		NA																	0					0						c.(112-114)GAA>CAA		X-prolyl aminopeptidase (aminopeptidase P) 3,							208.0	194.0	199.0					22																	41265050		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41265050G>C		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.112G>C	22.37:g.41265050G>C	ENSP00000349658:p.Glu38Gln					XPNPEP3_uc011aox.1_Missense_Mutation_p.E38Q|XPNPEP3_uc003azi.2_5'UTR|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	p.E38Q	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			2	204	+			38					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.112G>C	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	6.106	0.387747	0.11581	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.79033	-1.23;-1.22	5.43	2.19	0.27852	.	0.478146	0.24730	N	0.036070	T	0.60170	0.2248	L	0.31664	0.95	0.19300	N	0.99998	B;B	0.15473	0.013;0.002	B;B	0.14023	0.01;0.002	T	0.38887	-0.9640	10	0.19147	T	0.46	.	5.9524	0.19255	0.2318:0.1757:0.5925:0.0	.	38;38	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	Q	38;38;38;15	ENSP00000349658:E38Q;ENSP00000441942:E15Q	ENSP00000349658:E38Q	E	+	1	0	XPNPEP3	39594996	0.189000	0.23263	0.798000	0.32154	0.367000	0.29736	0.268000	0.18571	0.672000	0.31204	0.561000	0.74099	GAA		0.458	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		7	134	0	0	0	0	7	134				
DNAH1	25981	broad.mit.edu	37	3	52380551	52380551	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:52380551C>T	ENST00000420323.2	+	11	1981	c.1720C>T	c.(1720-1722)Cgc>Tgc	p.R574C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	574	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCAGCCTGCGCGACATGAG	0.567																																						uc011bef.1		NA																	0				large_intestine(3)	3						c.(1720-1722)CGC>TGC		dynein, axonemal, heavy chain 1							57.0	59.0	58.0					3																	52380551		2137	4243	6380	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52380551C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1720C>T	3.37:g.52380551C>T	ENSP00000401514:p.Arg574Cys					DNAH1_uc003ddt.1_Missense_Mutation_p.R574C	p.R574C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1981	+			574			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1720C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417706	0.62622	.	.	ENSG00000114841	ENST00000420323	T	0.24723	1.84	4.53	2.41	0.29592	.	0.419276	0.15323	N	0.268455	T	0.44286	0.1286	M	0.71581	2.175	0.35310	D	0.783771	D;D	0.89917	0.981;1.0	P;D	0.69142	0.676;0.962	T	0.54682	-0.8257	10	0.62326	D	0.03	.	7.6943	0.28585	0.6071:0.277:0.1159:0.0	.	574;574	C9JXH6;Q9P2D7-3	.;.	C	574	ENSP00000401514:R574C	ENSP00000401514:R574C	R	+	1	0	DNAH1	52355591	0.617000	0.27043	0.686000	0.30086	0.959000	0.62525	0.738000	0.26158	0.868000	0.35678	0.563000	0.77884	CGC		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	17	0	0	0	0	4	17				
OR5AC2	81050	broad.mit.edu	37	3	97806749	97806749	+	Missense_Mutation	SNP	G	G	A	rs565646972		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:97806749G>A	ENST00000358642.2	+	1	733	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A245T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CACATGCGGCGCCCATCTGCT	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.001					uc011bgs.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|endometrium(1)	skin(1)	1						c.(733-735)GCC>ACC		olfactory receptor, family 5, subfamily AC,							80.0	71.0	74.0					3																	97806749		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806749G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.733G>A	3.37:g.97806749G>A	ENSP00000351466:p.Ala245Thr						p.A245T	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	733	+			245			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.733G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299850	0.60195	.	.	ENSG00000196578	ENST00000358642	T	0.37235	1.21	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.216069	0.23088	U	0.052068	T	0.52741	0.1753	M	0.62723	1.935	0.22858	N	0.998647	D	0.69078	0.997	D	0.71656	0.974	T	0.41574	-0.9501	10	0.72032	D	0.01	-10.9172	9.6529	0.39908	0.0:0.0:0.792:0.208	.	245	Q9NZP5	O5AC2_HUMAN	T	245	ENSP00000351466:A245T	ENSP00000351466:A245T	A	+	1	0	OR5AC2	99289439	0.119000	0.22226	0.803000	0.32268	0.760000	0.43138	0.875000	0.28079	2.261000	0.74972	0.523000	0.50628	GCC		0.423	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			7	56	0	0	0	0	7	56				
NR1I2	8856	broad.mit.edu	37	3	119534276	119534276	+	Silent	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:119534276C>G	ENST00000337940.4	+	7	1209	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	NR1I2_ENST00000393716.2_Silent_p.L348L|NR1I2_ENST00000466380.1_Silent_p.L311L	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CCATCTCCCTCTTCTCCCCAG	0.567																																						uc003edj.2		NA																	0				ovary(2)	2						c.(1042-1044)CTC>CTG		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						96.0	89.0	92.0					3																	119534276		2203	4300	6503	SO:0001819	synonymous_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119534276C>G	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1161C>G	3.37:g.119534276C>G						NR1I2_uc003edi.2_Silent_p.L311L|NR1I2_uc003edk.2_Silent_p.L387L|NR1I2_uc003edl.2_Silent_p.L236L	p.L348L	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	7	2883	+			348			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	37	c.1044C>G	CCDS2995.1																																																																																				0.567	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			8	76	0	0	0	0	8	76				
PARP14	54625	broad.mit.edu	37	3	122411306	122411306	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:122411306A>G	ENST00000474629.2	+	4	780	c.514A>G	c.(514-516)Ata>Gta	p.I172V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTGGAGAACATAAGTGGCCT	0.363																																						uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(514-516)ATA>GTA		poly (ADP-ribose) polymerase family, member 14							156.0	150.0	152.0					3																	122411306		1878	4114	5992	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122411306A>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.514A>G	3.37:g.122411306A>G	ENSP00000418194:p.Ile172Val					PARP14_uc010hrk.2_5'Flank	p.I172V	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	4	573	+			172					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.514A>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	1.501	-0.551945	0.03996	.	.	ENSG00000173193	ENST00000474629	T	0.74632	-0.86	5.5	-4.53	0.03462	.	.	.	.	.	T	0.52191	0.1719	L	0.28556	0.865	0.20307	N	0.999915	B	0.09022	0.002	B	0.10450	0.005	T	0.37150	-0.9718	9	0.12766	T	0.61	.	4.2268	0.10584	0.3116:0.1234:0.4452:0.1198	.	172	Q460N5	PAR14_HUMAN	V	172	ENSP00000418194:I172V	ENSP00000420649:I13V	I	+	1	0	PARP14	123893996	0.000000	0.05858	0.004000	0.12327	0.082000	0.17680	-0.473000	0.06615	-1.016000	0.03371	0.533000	0.62120	ATA		0.363	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		14	65	0	0	0	0	14	65				
TOPBP1	11073	broad.mit.edu	37	3	133327412	133327412	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:133327412C>G	ENST00000260810.5	-	27	4523	c.4392G>C	c.(4390-4392)ttG>ttC	p.L1464F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1464	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATTCTGTTCTCAAGCAGTACA	0.393								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(4390-4392)TTG>TTC	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							142.0	133.0	136.0					3																	133327412		1899	4119	6018	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133327412C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4392G>C	3.37:g.133327412C>G	ENSP00000260810:p.Leu1464Phe						p.L1464F	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			27	4524	-			1464			BRCT 8.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4392G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904187	0.52333	.	.	ENSG00000163781	ENST00000260810	T	0.18657	2.2	5.43	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.77820	2.39	0.52501	D	0.999956	D	0.89917	1.0	D	0.83275	0.996	T	0.16897	-1.0387	10	0.45353	T	0.12	.	6.4092	0.21682	0.0:0.6543:0.1312:0.2145	.	1464	Q92547	TOPB1_HUMAN	F	1464	ENSP00000260810:L1464F	ENSP00000260810:L1464F	L	-	3	2	TOPBP1	134810102	1.000000	0.71417	0.992000	0.48379	0.772000	0.43724	0.945000	0.29056	0.659000	0.30945	-0.140000	0.14226	TTG		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		11	129	0	0	0	0	11	129				
SHOX2	6474	broad.mit.edu	37	3	157820662	157820662	+	Silent	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:157820662C>G	ENST00000425436.3	-	2	385	c.360G>C	c.(358-360)ctG>ctC	p.L120L	SHOX2_ENST00000483851.2_Silent_p.L120L|SHOX2_ENST00000389589.4_Silent_p.L144L|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|RSRC1_ENST00000480820.1_5'Flank	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	120					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGATCTTTCAGCTCCGGGG	0.572																																						uc003fbr.2		NA																	0					0						c.(358-360)CTG>CTC		short stature homeobox 2 isoform a							117.0	103.0	108.0					3																	157820662		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820662C>G	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.360G>C	3.37:g.157820662C>G						SHOX2_uc003fbs.2_Silent_p.L144L|SHOX2_uc010hvw.2_Silent_p.L120L	p.L120L	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	499	-			120					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.360G>C	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224379	0.22457	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.47	4.6	0.57074	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58584	-0.7611	4	.	.	.	.	10.1272	0.42656	0.0:0.8483:0.0:0.1517	.	.	.	.	Q	24	.	.	E	-	1	0	SHOX2	159303356	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.687000	0.25407	1.310000	0.45006	0.643000	0.83706	GAA		0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			6	73	0	0	0	0	6	73				
PIK3CA	5290	broad.mit.edu	37	3	178928073	178928073	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:178928073G>A	ENST00000263967.3	+	8	1508	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	451	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H450fs*9(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGTACCTCATGGATTAGAAGA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Complex - frameshift(1)|Deletion - In frame(1)	p.G451_L456>V(1)|p.P449_L455del(1)	endometrium(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1351-1353)GGA>AGA		phosphoinositide-3-kinase, catalytic, alpha							135.0	129.0	131.0					3																	178928073		1829	4090	5919	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928073G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1351G>A	3.37:g.178928073G>A	ENSP00000263967:p.Gly451Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G451R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1508	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		451			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1351G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707906	0.89018	.	.	ENSG00000121879	ENST00000263967	T	0.70516	-0.49	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.75947	-0.3138	10	0.21014	T	0.42	-18.27	19.6973	0.96031	0.0:0.0:1.0:0.0	.	451	P42336	PK3CA_HUMAN	R	451	ENSP00000263967:G451R	ENSP00000263967:G451R	G	+	1	0	PIK3CA	180410767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.674000	0.91012	0.655000	0.94253	GGA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			12	89	0	0	0	0	12	89				
ACAP2	23527	broad.mit.edu	37	3	195041540	195041540	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195041540A>C	ENST00000326793.6	-	10	977	c.747T>G	c.(745-747)gaT>gaG	p.D249E		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	249					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CACTGGAGAAATCCTACACAA	0.348																																						uc003fun.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(745-747)GAT>GAG		centaurin, beta 2							84.0	83.0	83.0					3																	195041540		2203	4299	6502	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195041540A>C		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.747T>G	3.37:g.195041540A>C	ENSP00000324287:p.Asp249Glu						p.D249E	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			10	988	-			249					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.747T>G	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.22|12.22	1.872763|1.872763	0.33069|0.33069	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	T|.	0.44881|.	0.91|.	5.9|5.9	2.2|2.2	0.27929|0.27929	.|.	0.043724|.	0.85682|.	D|.	0.000000|.	T|T	0.53514|0.53514	0.1801|0.1801	L|L	0.42581|0.42581	1.335|1.335	0.46279|0.46279	D|D	0.998966|0.998966	B|.	0.32573|.	0.376|.	B|.	0.36418|.	0.224|.	T|T	0.42481|0.42481	-0.9449|-0.9449	10|5	0.05959|.	T|.	0.93|.	.|.	9.1677|9.1677	0.37060|0.37060	0.7894:0.0:0.2106:0.0|0.7894:0.0:0.2106:0.0	.|.	249|.	Q15057|.	ACAP2_HUMAN|.	E|V	249|124	ENSP00000324287:D249E|.	ENSP00000324287:D249E|.	D|F	-|-	3|1	2|0	ACAP2|ACAP2	196522829|196522829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.853000|0.853000	0.48598|0.48598	1.259000|1.259000	0.32956|0.32956	0.491000|0.491000	0.27793|0.27793	0.459000|0.459000	0.35465|0.35465	GAT|TTT		0.348	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		3	54	0	0	0	0	3	54				
MUC4	4585	broad.mit.edu	37	3	195517410	195517410	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195517410A>G	ENST00000463781.3	-	2	1500	c.1041T>C	c.(1039-1041)gtT>gtC	p.V347V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V347V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	352					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)		TTGATGTTGTAACCGGTGTGA	0.473																																						uc011bto.1		NA																	0					0						c.(1039-1041)GTT>GTC		mucin 4 isoform a							255.0	243.0	247.0					3																	195517410		1998	4165	6163	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517410A>G	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.1041T>C	3.37:g.195517410A>G						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.V229V	p.V347V	NM_018406	NP_060876	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	1501	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	352					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1041T>C	CCDS54700.1																																																																																				0.473	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		10	304	0	0	0	0	10	304				
MSX1	4487	broad.mit.edu	37	4	4864702	4864702	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:4864702G>A	ENST00000382723.4	+	2	978	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	248					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCTGCCACCGGCTGCCTTCG	0.672																																						uc003gif.2		NA																	0					0						c.(742-744)CCG>CCA		msh homeobox 1							24.0	21.0	22.0					4																	4864702		2183	4282	6465	SO:0001819	synonymous_variant	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864702G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.744G>A	4.37:g.4864702G>A							p.P248P	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	979	+			242					A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	c.744G>A	CCDS3378.2																																																																																				0.672	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			4	26	0	0	0	0	4	26				
FGF2	2247	broad.mit.edu	37	4	123797546	123797546	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:123797546G>A	ENST00000608478.1	+	2	593	c.249G>A	c.(247-249)ctG>ctA	p.L83L	FGF2_ENST00000264498.3_Silent_p.L216L			P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	216					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	ACCGTTACCTGGCTATGAAGG	0.378																																						uc003iev.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(646-648)CTG>CTA		fibroblast growth factor 2	Pentosan Polysulfate(DB00686)						164.0	155.0	158.0					4																	123797546		2203	4300	6503	SO:0001819	synonymous_variant	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123797546G>A	J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"""Endogenous ligands"""	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000608478.1:c.249G>A	4.37:g.123797546G>A							p.L216L	NM_002006	NP_001997	P09038	FGF2_HUMAN			2	716	+			216					A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Silent	SNP	ENST00000608478.1	37	c.648G>A																																																																																					0.378	FGF2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472102.1	NM_002006		5	53	0	0	0	0	5	53				
TLR3	7098	broad.mit.edu	37	4	187004157	187004157	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:187004157C>T	ENST00000296795.3	+	4	1421	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	TLR3_ENST00000504367.1_Silent_p.G162G	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	439					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGACCTGGGCCTTAATGAAA	0.408																																						uc003iyq.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1315-1317)GGC>GGT		toll-like receptor 3 precursor							65.0	61.0	62.0					4																	187004157		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004157C>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1317C>T	4.37:g.187004157C>T						TLR3_uc011ckz.1_Silent_p.G162G|TLR3_uc003iyr.2_Silent_p.G162G	p.G439G	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1418	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	439			LRR 16.|Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1317C>T	CCDS3846.1																																																																																				0.408	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			12	42	0	0	0	0	12	42				
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Nonsense_Mutation	SNP	C	C	A	rs143733594		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr5:177163583C>A	ENST00000440605.3	-	11	713	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	FAM153A_ENST00000510276.1_Nonsense_Mutation_p.E144*|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458																																						uc010jkp.1		NA																	3	Substitution - Missense(3)	p.E144K(1)	large_intestine(1)|prostate(1)|skin(1)	skin(1)	1						c.(430-432)GAA>TAA		hypothetical protein LOC285596							99.0	80.0	86.0					5																	177163583		2160	4108	6268	SO:0001587	stop_gained	285596							g.chr5:177163583C>A	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.430G>T	5.37:g.177163583C>A	ENSP00000411506:p.Glu144*					FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Nonsense_Mutation_p.E144*	p.E144*	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	851	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	144					A8K0F3|O94852	Nonsense_Mutation	SNP	ENST00000440605.3	37	c.430G>T	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939630	0.52972	.	.	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	0.885	0.885	0.19188	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	3.0151	0.06057	0.0:0.3039:0.0:0.6961	.	.	.	.	X	221;144;144	.	ENSP00000353887:E144X	E	-	1	0	FAM153A	177096189	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.440000	0.02412	-0.128000	0.11641	-1.342000	0.01247	GAA		0.458	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663		4	71	1	0	0.00909568	0.00972732	4	71				
HIST1H2AA	221613	broad.mit.edu	37	6	25726721	25726721	+	Missense_Mutation	SNP	C	C	T	rs373261344		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:25726721C>T	ENST00000297012.3	-	1	69	c.35G>A	c.(34-36)cGc>cAc	p.R12H	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGACTTGGCGCGTGCTTTTCC	0.527																																						uc003nfc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CGC>CAC		histone cluster 1, H2aa		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	462.0	354.0	391.0		35	0.7	0.0	6		391	0,8600		0,0,4300	no	missense	HIST1H2AA	NM_170745.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	12/132	25726721	1,13005	2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726721C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.35G>A	6.37:g.25726721C>T	ENSP00000297012:p.Arg12His					HIST1H2BA_uc003nfd.2_5'Flank	p.R12H	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	70	-			12						Missense_Mutation	SNP	ENST00000297012.3	37	c.35G>A	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579855	0.28180	2.27E-4	0.0	ENSG00000164508	ENST00000297012	T	0.47177	0.85	3.56	0.695	0.18070	Histone-fold (2);Histone H2A (1);	0.000000	0.46442	D	0.000298	T	0.24236	0.0587	M	0.69523	2.12	0.29536	N	0.852465	B	0.06786	0.001	B	0.01281	0.0	T	0.26018	-1.0115	10	0.87932	D	0	.	7.426	0.27098	0.0:0.6839:0.0:0.3161	.	12	Q96QV6	H2A1A_HUMAN	H	12	ENSP00000297012:R12H	ENSP00000297012:R12H	R	-	2	0	HIST1H2AA	25834700	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.632000	0.24583	0.128000	0.18479	0.555000	0.69702	CGC		0.527	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		11	62	0	0	0	0	11	62				
HIST1H4B	8366	broad.mit.edu	37	6	26027283	26027283	+	Silent	SNP	C	C	T	rs192365376		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nfr.2		NA																	0				ovary(2)	2						c.(196-198)GTG>GTA		histone cluster 1, H4b							105.0	88.0	94.0					6																	26027283		2203	4300	6503	SO:0001819	synonymous_variant	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027283C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.198G>A	6.37:g.26027283C>T			OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.V66V	NM_003544	NP_003535	P62805	H4_HUMAN			1	198	-			66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377364.3	37	c.198G>A	CCDS4572.1																																																																																				0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		5	70	0	0	0	0	5	70				
HTR1B	3351	broad.mit.edu	37	6	78172633	78172633	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:78172633G>A	ENST00000369947.2	-	1	857	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	163					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGCCCTCTTGGGAGTCCTTTT	0.602																																						uc003pil.1		NA																	0					0						c.(487-489)CCC>CTC		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						59.0	59.0	59.0					6																	78172633		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172633G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.488C>T	6.37:g.78172633G>A	ENSP00000358963:p.Pro163Leu						p.P163L	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	488	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	163			Cytoplasmic (By similarity).		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.488C>T	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243964	0.39697	.	.	ENSG00000135312	ENST00000369947	T	0.72835	-0.69	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.190854	0.45867	D	0.000334	T	0.47135	0.1429	L	0.28014	0.82	0.80722	D	1	B	0.33612	0.419	B	0.34180	0.177	T	0.48658	-0.9016	9	.	.	.	.	17.6594	0.88188	0.0:0.0:1.0:0.0	.	163	P28222	5HT1B_HUMAN	L	163	ENSP00000358963:P163L	.	P	-	2	0	HTR1B	78229352	1.000000	0.71417	0.981000	0.43875	0.709000	0.40893	6.405000	0.73272	2.647000	0.89833	0.555000	0.69702	CCC		0.602	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		4	47	0	0	0	0	4	47				
CASP8AP2	9994	broad.mit.edu	37	6	90578310	90578310	+	RNA	SNP	A	A	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:90578310A>T	ENST00000551025.1	+	0	6738									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)		GTGGGGTGATACAGGTAGATG	0.403																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	0				ovary(2)	2						c.(5299-5301)ATA>ATT		caspase 8 associated protein 2							82.0	76.0	78.0					6																	90578310		1927	4144	6071			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.chr6:90578310A>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.90578310A>T						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.I1767I|CASP8AP2_uc011dzz.1_Silent_p.I1767I	p.I1767I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	5497	+		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)	1767			NCOA2-binding.			Silent	SNP	ENST00000551025.1	37	c.5301A>T																																																																																					0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		6	34	0	0	0	0	6	34				
EPB41L2	2037	broad.mit.edu	37	6	131206332	131206332	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:131206332A>G	ENST00000337057.3	-	12	1918	c.1737T>C	c.(1735-1737)ccT>ccC	p.P579P	EPB41L2_ENST00000525271.1_Silent_p.P579P|EPB41L2_ENST00000529208.1_Silent_p.P579P|EPB41L2_ENST00000392427.3_Silent_p.P579P|EPB41L2_ENST00000525193.1_Silent_p.P579P|EPB41L2_ENST00000530481.1_Silent_p.P579P|EPB41L2_ENST00000368128.2_Silent_p.P579P|EPB41L2_ENST00000530757.1_5'Flank|EPB41L2_ENST00000528282.1_Silent_p.P579P|EPB41L2_ENST00000527411.1_Silent_p.P579P|EPB41L2_ENST00000527659.1_Silent_p.P579P|EPB41L2_ENST00000445890.2_Silent_p.P579P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	579	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGACAAGTCCAGGTCCATAGG	0.493											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1735-1737)CCT>CCC		erythrocyte membrane protein band 4.1-like 2							142.0	139.0	140.0					6																	131206332		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131206332A>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1737T>C	6.37:g.131206332A>G			OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1586	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Silent_p.P579P|EPB41L2_uc011eby.1_Silent_p.P579P|EPB41L2_uc003qci.2_Silent_p.P579P|EPB41L2_uc010kfk.2_Silent_p.P579P|EPB41L2_uc010kfl.1_Silent_p.P579P	p.P579P	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	12	1919	-	Breast(56;0.0639)		579			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1737T>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	A	2.943	-0.218542	0.06101	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.63	-0.856	0.10697	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	.	4.4069	0.11414	0.507:0.0:0.0974:0.3956	.	.	.	.	R	70	.	.	W	-	1	0	EPB41L2	131248025	0.740000	0.28207	0.872000	0.34217	0.199000	0.23934	0.123000	0.15708	-0.290000	0.09025	0.533000	0.62120	TGG		0.493	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			8	153	0	0	0	0	8	153				
MED23	9439	broad.mit.edu	37	6	131915244	131915244	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:131915244A>G	ENST00000368068.3	-	23	3406	c.3227T>C	c.(3226-3228)gTc>gCc	p.V1076A	MED23_ENST00000403834.3_Missense_Mutation_p.V1082A|MED23_ENST00000354577.4_Missense_Mutation_p.V1082A|MED23_ENST00000545957.1_Missense_Mutation_p.V717A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.V1076A|MED23_ENST00000368058.1_Missense_Mutation_p.V1082A	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1076					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATATTATCGACTAGTCTGCC	0.318																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3226-3228)GTC>GCC		mediator complex subunit 23 isoform a							100.0	93.0	96.0					6																	131915244		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131915244A>G	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3227T>C	6.37:g.131915244A>G	ENSP00000357047:p.Val1076Ala					MED23_uc003qcq.2_Missense_Mutation_p.V1082A|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.V717A	p.V1076A	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	23	3401	-	Breast(56;0.0753)		1076					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.3227T>C	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.680811	0.47886	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	6.17	0.99709	.	3.196550	0.00481	N	0.000131	T	0.59797	0.2220	N	0.24115	0.695	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.20384	0.029;0.009;0.005	T	0.01081	-1.1458	10	0.24483	T	0.36	0.8909	16.8222	0.85835	1.0:0.0:0.0:0.0	.	717;1076;1082	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	A	1082;1076;1082;1076;1082;717	ENSP00000346588:V1082A;ENSP00000357047:V1076A;ENSP00000384536:V1082A;ENSP00000357039:V1076A;ENSP00000357037:V1082A;ENSP00000439977:V717A	ENSP00000346588:V1082A	V	-	2	0	MED23	131956937	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	9.273000	0.95719	2.371000	0.80710	0.533000	0.62120	GTC		0.318	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			4	47	0	0	0	0	4	47				
KIAA1244	57221	broad.mit.edu	37	6	138576730	138576730	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:138576730A>G	ENST00000251691.4	+	10	1094	c.928A>G	c.(928-930)Act>Gct	p.T310A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCTCCTGCACTGCGCCGGC	0.642																																						uc003qhu.2		NA																	0				ovary(1)|skin(1)	2						c.(928-930)ACT>GCT		brefeldin A-inhibited guanine							66.0	61.0	63.0					6																	138576730		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576730A>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.928A>G	6.37:g.138576730A>G	ENSP00000251691:p.Thr310Ala						p.T310A	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	928	+	Breast(32;0.135)		310						Missense_Mutation	SNP	ENST00000251691.4	37	c.928A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660581	0.47572	.	.	ENSG00000112379	ENST00000251691	T	0.20069	2.1	5.68	3.3	0.37823	.	0.195599	0.52532	N	0.000077	T	0.10508	0.0257	L	0.61218	1.895	0.37433	D	0.914121	B	0.06786	0.001	B	0.08055	0.003	T	0.03335	-1.1047	10	0.66056	D	0.02	-7.5395	9.8178	0.40862	0.8612:0.0:0.1388:0.0	.	310	Q5TH69	BIG3_HUMAN	A	310	ENSP00000251691:T310A	ENSP00000251691:T310A	T	+	1	0	KIAA1244	138618423	1.000000	0.71417	0.882000	0.34594	0.503000	0.33858	5.205000	0.65186	0.444000	0.26612	0.533000	0.62120	ACT		0.642	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		9	77	0	0	0	0	9	77				
STX11	8676	broad.mit.edu	37	6	144508521	144508521	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:144508521G>A	ENST00000367568.4	+	2	940	c.757G>A	c.(757-759)Gtc>Atc	p.V253I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	253	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACAAAAGACGGTCGACTACAC	0.627									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(757-759)GTC>ATC		syntaxin 11							59.0	48.0	52.0					6																	144508521		2203	4300	6503	SO:0001583	missense	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508521G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.757G>A	6.37:g.144508521G>A	ENSP00000356540:p.Val253Ile						p.V253I	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	949	+			253			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.757G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248908	0.22880	.	.	ENSG00000135604	ENST00000367568	T	0.23754	1.89	5.72	-6.06	0.02165	t-SNARE (1);Target SNARE coiled-coil domain (3);	0.912137	0.09455	N	0.799873	T	0.17492	0.0420	M	0.67700	2.07	0.09310	N	1	B	0.28178	0.202	B	0.32342	0.144	T	0.11446	-1.0587	10	0.38643	T	0.18	-4.0475	26.5195	0.99996	0.0693:0.1396:0.7911:0.0	.	253	O75558	STX11_HUMAN	I	253	ENSP00000356540:V253I	ENSP00000356540:V253I	V	+	1	0	STX11	144550214	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.089000	0.11180	-1.871000	0.01138	-0.175000	0.13238	GTC		0.627	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			4	30	0	0	0	0	4	30				
ACAT2	39	broad.mit.edu	37	6	160199708	160199708	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:160199708G>A	ENST00000367048.4	+	9	2801	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	ACAT2_ENST00000541436.1_Silent_p.G376G|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	347					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAGGAGGGGCTATAGCCT	0.443																																						uc010kjy.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1039-1041)GGG>GGA		acetyl-Coenzyme A acetyltransferase 2							110.0	106.0	107.0					6																	160199708		2203	4300	6503	SO:0001819	synonymous_variant	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160199708G>A	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.1041G>A	6.37:g.160199708G>A						ACAT2_uc011efw.1_Silent_p.G376G|TCP1_uc003qsr.2_3'UTR|TCP1_uc003qss.2_3'UTR|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_3'UTR	p.G347G	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	9	1172	+		Breast(66;0.000776)|Ovarian(120;0.0303)	347					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	ENST00000367048.4	37	c.1041G>A	CCDS5268.1																																																																																				0.443	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		16	109	0	0	0	0	16	109				
NEUROD6	63974	broad.mit.edu	37	7	31378675	31378675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:31378675C>A	ENST00000297142.3	-	2	530	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	70					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E70*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AACCCAttttcatcttcctct	0.483																																						uc003tch.2		NA																	1	Substitution - Nonsense(1)		endometrium(1)	ovary(2)	2						c.(208-210)GAA>TAA		neurogenic differentiation 6							247.0	237.0	241.0					7																	31378675		2203	4300	6503	SO:0001587	stop_gained	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378675C>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.208G>T	7.37:g.31378675C>A	ENSP00000297142:p.Glu70*						p.E70*	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	561	-			70					Q548T9|Q9H3H6	Nonsense_Mutation	SNP	ENST00000297142.3	37	c.208G>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727498	0.97792	.	.	ENSG00000164600	ENST00000297142	.	.	.	5.52	5.52	0.82312	.	0.056603	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-11.9226	19.1284	0.93394	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000297142:E70X	E	-	1	0	NEUROD6	31345200	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.955000	0.70306	2.622000	0.88805	0.644000	0.83932	GAA		0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		24	169	1	0	5.35e-11	6.28e-11	24	169				
DBNL	28988	broad.mit.edu	37	7	44100510	44100510	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:44100510G>C	ENST00000448521.1	+	13	1386	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Missense_Mutation_p.E327Q|DBNL_ENST00000490734.2_Missense_Mutation_p.E336Q|DBNL_ENST00000494774.1_Missense_Mutation_p.E431Q|DBNL_ENST00000468694.1_Missense_Mutation_p.E439Q|DBNL_ENST00000452943.1_Missense_Mutation_p.E406Q|DBNL_ENST00000456905.1_Missense_Mutation_p.E382Q	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	430	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			E -> D (in Ref. 6; CAG33448). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGAGCTCATTGAGTGAGGCTG	0.572																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3		NA																	0				skin(1)	1						c.(1288-1290)GAG>CAG		drebrin-like isoform b							120.0	93.0	102.0					7																	44100510		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44100510G>C	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1288G>C	7.37:g.44100510G>C	ENSP00000411701:p.Glu430Gln					DBNL_uc003tjo.3_Missense_Mutation_p.E431Q|DBNL_uc003tjr.3_Missense_Mutation_p.E303Q|DBNL_uc003tjq.3_Missense_Mutation_p.E439Q|DBNL_uc011kbm.1_Missense_Mutation_p.E406Q|DBNL_uc011kbn.1_Missense_Mutation_p.E327Q|DBNL_uc011kbo.1_Missense_Mutation_p.E331Q|DBNL_uc011kbp.1_Missense_Mutation_p.E382Q|DBNL_uc011kbq.1_Missense_Mutation_p.E355Q|DBNL_uc011kbr.1_Missense_Mutation_p.E379Q|DBNL_uc011kbs.1_Missense_Mutation_p.E335Q	p.E430Q	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			13	1386	+			430	E -> D (in Ref. 6; CAG33448).		SH3.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.1288G>C	CCDS34623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.07|19.07|19.07	3.755607|3.755607|3.755607	0.69648|0.69648|0.69648	.|.|.	.|.|.	ENSG00000136279|ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000452661|ENST00000432854	T;T;T;T;T;T;T|.|.	0.37915|.|.	1.61;1.91;1.92;1.97;1.17;1.63;1.92|.|.	5.4|5.4|5.4	2.53|2.53|2.53	0.30540|0.30540|0.30540	Src homology-3 domain (3);|.|.	0.159125|.|.	0.42821|.|.	D|.|.	0.000653|.|.	T|T|.	0.33527|0.33527|.	0.0866|0.0866|.	N|N|N	0.21097|0.21097|0.21097	0.63|0.63|0.63	0.34396|0.34396|0.34396	D|D|D	0.694782|0.694782|0.694782	D;D;D;D;P;D;D;P;D|.|.	0.89917|.|.	0.999;1.0;0.985;1.0;0.947;1.0;1.0;0.853;1.0|.|.	D;D;D;D;D;D;D;P;D|.|.	0.85130|.|.	0.994;0.997;0.945;0.959;0.922;0.997;0.982;0.694;0.982|.|.	T|T|.	0.38373|0.38373|.	-0.9664|-0.9664|.	10|5|.	0.66056|.|.	D|.|.	0.02|.|.	.|.|.	6.691|6.691|6.691	0.23171|0.23171|0.23171	0.0715:0.1297:0.6643:0.1345|0.0715:0.1297:0.6643:0.1345|0.0715:0.1297:0.6643:0.1345	.|.|.	327;379;360;382;336;406;439;430;431|.|.	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.|.	.;.;.;.;.;.;.;DBNL_HUMAN;.|.|.	Q|F|S	430;382;327;406;439;431;336;360|137|358	ENSP00000411701:E430Q;ENSP00000416421:E382Q;ENSP00000415173:E327Q;ENSP00000405343:E406Q;ENSP00000417653:E439Q;ENSP00000419992:E431Q;ENSP00000417749:E336Q|.|.	ENSP00000415173:E327Q|.|.	E|L|X	+|+|+	1|3|2	0|2|2	DBNL|DBNL|DBNL	44067035|44067035|44067035	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.849000|0.849000|0.849000	0.48306|0.48306|0.48306	2.644000|2.644000|2.644000	0.46613|0.46613|0.46613	0.611000|0.611000|0.611000	0.30052|0.30052|0.30052	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAG|TTG|TGA		0.572	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		3	21	0	0	0	0	3	21				
GRB10	2887	broad.mit.edu	37	7	50674050	50674050	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:50674050G>A	ENST00000401949.1	-	14	1725	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	GRB10_ENST00000398810.2_Missense_Mutation_p.P361L|GRB10_ENST00000402497.1_Missense_Mutation_p.P361L|GRB10_ENST00000407526.1_Missense_Mutation_p.P361L|GRB10_ENST00000335866.3_Missense_Mutation_p.P361L|GRB10_ENST00000403097.1_Missense_Mutation_p.P413L|GRB10_ENST00000402578.1_Missense_Mutation_p.P361L|GRB10_ENST00000398812.2_Missense_Mutation_p.P419L|GRB10_ENST00000357271.5_Missense_Mutation_p.P373L|GRB10_ENST00000439599.1_Missense_Mutation_p.P413L|GRB10_ENST00000406641.1_Missense_Mutation_p.P361L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	419					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGTCGAGAACGGGGACAGCAA	0.527									Russell-Silver syndrome																													uc003tpi.2		NA																	0				lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1255-1257)CCG>CTG		growth factor receptor-bound protein 10 isoform							106.0	111.0	109.0					7																	50674050		1973	4144	6117	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50674050G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1256C>T	7.37:g.50674050G>A	ENSP00000385770:p.Pro419Leu					GRB10_uc003tph.3_Missense_Mutation_p.P361L|GRB10_uc003tpj.2_Missense_Mutation_p.P373L|GRB10_uc003tpk.2_Missense_Mutation_p.P419L|GRB10_uc010kzb.2_Missense_Mutation_p.P361L|GRB10_uc003tpl.2_Missense_Mutation_p.P413L|GRB10_uc003tpm.2_Missense_Mutation_p.P361L|GRB10_uc003tpn.2_Missense_Mutation_p.P361L	p.P419L	NM_005311	NP_005302	Q13322	GRB10_HUMAN			11	1287	-	Glioma(55;0.08)|all_neural(89;0.245)		419					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1256C>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	G	1.224	-0.625967	0.03610	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;D;D;D;T;D;T;D;T;D	0.82255	-1.45;-1.45;-1.59;-1.59;-1.59;-1.45;-1.59;-1.42;-1.59;-1.45;-1.59	5.34	3.32	0.38043	.	0.249428	0.46758	D	0.000277	T	0.70509	0.3232	L	0.31207	0.915	0.48632	D	0.99968	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.09377	0.004;0.002;0.001	T	0.61758	-0.6997	10	0.11485	T	0.65	-18.8639	11.7568	0.51880	0.0:0.0:0.3979:0.6021	.	413;373;419	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	L	419;413;361;361;361;413;361;373;361;419;361	ENSP00000381793:P419L;ENSP00000406716:P413L;ENSP00000338543:P361L;ENSP00000381790:P361L;ENSP00000385189:P361L;ENSP00000385544:P413L;ENSP00000385366:P361L;ENSP00000349818:P373L;ENSP00000385046:P361L;ENSP00000385770:P419L;ENSP00000385748:P361L	ENSP00000338543:P361L	P	-	2	0	GRB10	50641544	1.000000	0.71417	0.045000	0.18777	0.207000	0.24258	2.872000	0.48467	1.202000	0.43218	0.655000	0.94253	CCG		0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			17	97	0	0	0	0	17	97				
ABCB1	5243	broad.mit.edu	37	7	87229508	87229508	+	Splice_Site	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:87229508T>C	ENST00000265724.3	-	3	412		c.e3-2		ABCB1_ENST00000543898.1_5'Flank	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CATTCCGACCTGAAGAGAAAC	0.468																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.e3-1		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						69.0	66.0	67.0					7																	87229508		2203	4300	6503	SO:0001630	splice_region_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87229508T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.6-2A>G	7.37:g.87229508T>C						ABCB1_uc011khc.1_Splice_Site|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron		NM_000927	NP_000918	P08183	MDR1_HUMAN			3	413	-	Esophageal squamous(14;0.00164)							A8K294|B5AK60|Q12755|Q14812	Splice_Site	SNP	ENST00000265724.3	37	c.-5_splice	CCDS5608.1																																																																																				0.468	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	Intron	3	22	0	0	0	0	3	22				
DOCK4	9732	broad.mit.edu	37	7	111368416	111368416	+	Nonsense_Mutation	SNP	G	G	A	rs527410636		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:111368416G>A	ENST00000437633.1	-	52	6071	c.5815C>T	c.(5815-5817)Cga>Tga	p.R1939*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.R1948*|DOCK4_ENST00000494651.2_Nonsense_Mutation_p.R822*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1939	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGCTGGATCGCGCTGCCAGA	0.692																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5815-5817)CGA>TGA		dedicator of cytokinesis 4							12.0	15.0	14.0					7																	111368416		1709	3893	5602	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368416G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5815C>T	7.37:g.111368416G>A	ENSP00000404179:p.Arg1939*					DOCK4_uc011kml.1_Nonsense_Mutation_p.R820*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.R808*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.R1351*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.R1984*|DOCK4_uc003vfv.2_Nonsense_Mutation_p.R252*	p.R1939*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			52	6084	-		Acute lymphoblastic leukemia(1;0.0441)	1939			Pro-rich.		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.5815C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	43	9.881406	0.99286	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.	.	.	5.59	3.63	0.41609	.	0.058042	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1356	0.65287	0.0:0.0:0.681:0.319	.	.	.	.	X	1927;1948;822;1939;1898	.	ENSP00000345432:R1898X	R	-	1	2	DOCK4	111155652	0.879000	0.30193	0.018000	0.16275	0.170000	0.22686	1.772000	0.38552	0.552000	0.29026	0.655000	0.94253	CGA		0.692	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	38	0	0	0	0	6	38				
FEZF1	389549	broad.mit.edu	37	7	121942271	121942271	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:121942271G>A	ENST00000442488.2	-	4	1275	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	FEZF1_ENST00000427185.2_Missense_Mutation_p.P353L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P399L|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	403					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCGCACGTGGGGCAGGTGAA	0.562																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(1207-1209)CCC>CTC		FEZ family zinc finger 1 isoform 1							183.0	151.0	162.0					7																	121942271		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942271G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1208C>T	7.37:g.121942271G>A	ENSP00000411145:p.Pro403Leu					FEZF1_uc003vkc.2_Missense_Mutation_p.P353L|uc010lko.1_5'Flank	p.P403L	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			4	1282	-			403			C2H2-type 6.		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.1208C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001253	0.54254	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07114	3.22;3.22;3.22	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.35487	1.065	0.80722	D	1	D;D	0.57571	0.98;0.975	P;P	0.52957	0.714;0.591	T	0.01127	-1.1443	10	0.36615	T	0.2	-20.2938	19.3554	0.94410	0.0:0.0:1.0:0.0	.	403;353	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	L	403;399;353	ENSP00000411145:P403L;ENSP00000332777:P399L;ENSP00000392727:P353L	ENSP00000332777:P399L	P	-	2	0	FEZF1	121729507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.803000	0.62546	2.813000	0.96785	0.561000	0.74099	CCC		0.562	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		20	112	0	0	0	0	20	112				
PXDNL	137902	broad.mit.edu	37	8	52322037	52322037	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:52322037G>T	ENST00000356297.4	-	17	2247	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.P716Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	716					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGCAGTTTGGCAGAGGCCT	0.622																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(2146-2148)CCA>CAA		peroxidasin homolog-like precursor							30.0	34.0	33.0					8																	52322037		2125	4239	6364	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52322037G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2147C>A	8.37:g.52322037G>T	ENSP00000348645:p.Pro716Gln					PXDNL_uc003xqt.3_RNA	p.P716Q	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2248	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	716					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2147C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	1.144	-0.648736	0.03506	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66995	-0.23;-0.24	3.71	3.71	0.42584	.	.	.	.	.	T	0.54902	0.1887	L	0.40543	1.245	0.09310	N	1	B	0.29716	0.255	B	0.29862	0.108	T	0.42832	-0.9428	8	.	.	.	.	8.8695	0.35307	0.0:0.0:0.7761:0.2239	.	716	A1KZ92	PXDNL_HUMAN	Q	716	ENSP00000348645:P716Q;ENSP00000444865:P716Q	.	P	-	2	0	PXDNL	52484590	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	0.639000	0.24690	1.779000	0.52309	0.555000	0.69702	CCA		0.622	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	27	1	0	7.04e-09	8.09e-09	12	27				
GRHL2	79977	broad.mit.edu	37	8	102589743	102589743	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:102589743C>T	ENST00000251808.3	+	7	1337	c.999C>T	c.(997-999)gaC>gaT	p.D333D	GRHL2_ENST00000395927.1_Silent_p.D317D	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	333					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGTCCTTGACATTGGTAAGT	0.483																																						uc010mbu.2		NA																	0				ovary(2)|skin(1)	3						c.(997-999)GAC>GAT		transcription factor CP2-like 3							115.0	93.0	100.0					8																	102589743		2203	4300	6503	SO:0001819	synonymous_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102589743C>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.999C>T	8.37:g.102589743C>T							p.D333D	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		7	1329	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		333					A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	c.999C>T	CCDS34931.1																																																																																				0.483	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		7	83	0	0	0	0	7	83				
ZHX1	11244	broad.mit.edu	37	8	124266308	124266308	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:124266308C>G	ENST00000522655.1	-	3	2419	c.1879G>C	c.(1879-1881)Gaa>Caa	p.E627Q	ZHX1_ENST00000297857.2_Missense_Mutation_p.E627Q|ZHX1_ENST00000395571.3_Missense_Mutation_p.E627Q|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	627					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)			ATTTTCTCTTCCTTTAAAGCT	0.383																																						uc003yqe.2		NA																	0				ovary(1)	1						c.(1879-1881)GAA>CAA		zinc fingers and homeoboxes 1							123.0	131.0	128.0					8																	124266308		2203	4300	6503	SO:0001583	missense	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.chr8:124266308C>G	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.1879G>C	8.37:g.124266308C>G	ENSP00000428821:p.Glu627Gln					C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.E627Q|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.E627Q	p.E627Q	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2309	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		627			Homeobox 3.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1879G>C	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.55|14.55	2.569541|2.569541	0.45798|0.45798	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.26223|.	1.75;1.75;1.75|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Homeobox (1);Homeodomain-like (1);|.	0.428344|.	0.26824|.	N|.	0.022308|.	T|T	0.75554|0.75554	0.3865|0.3865	.|.	.|.	.|.	0.44432|0.44432	D|D	0.997358|0.997358	B|.	0.21606|.	0.058|.	B|.	0.24974|.	0.057|.	T|T	0.72649|0.72649	-0.4229|-0.4229	9|4	0.51188|.	T|.	0.08|.	-14.8408|-14.8408	19.5944|19.5944	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	627|.	Q9UKY1|.	ZHX1_HUMAN|.	Q|S	627|311	ENSP00000297857:E627Q;ENSP00000378938:E627Q;ENSP00000428821:E627Q|.	ENSP00000297857:E627Q|.	E|R	-|-	1|3	0|2	ZHX1|ZHX1	124335489|124335489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.532000|2.532000	0.45659|0.45659	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAA|AGG		0.383	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			3	61	0	0	0	0	3	61				
IFNA4	3441	broad.mit.edu	37	9	21187444	21187444	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:21187444G>A	ENST00000421715.1	-	1	154	c.87C>T	c.(85-87)acC>acT	p.T29T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	29					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.T29T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGGCTGTGGGTCTGAGGCA	0.512																																					NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(85-87)ACC>ACT		interferon, alpha 4 precursor							36.0	39.0	38.0					9																	21187444		2201	4277	6478	SO:0001819	synonymous_variant	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187444G>A		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.87C>T	9.37:g.21187444G>A							p.T29T	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	155	-			29					P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	c.87C>T	CCDS6498.1																																																																																				0.512	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		5	85	0	0	0	0	5	85				
ACO1	48	broad.mit.edu	37	9	32448924	32448924	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32448924G>C	ENST00000309951.6	+	20	2539	c.2401G>C	c.(2401-2403)Gag>Cag	p.E801Q	ACO1_ENST00000379923.1_Missense_Mutation_p.E801Q|ACO1_ENST00000541043.1_Missense_Mutation_p.E702Q	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	801					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGAGAGCTACGAGCGCATTCA	0.488																																						uc003zqw.3		NA																	0					0						c.(2401-2403)GAG>CAG		aconitase 1							127.0	109.0	115.0					9																	32448924		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32448924G>C	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2401G>C	9.37:g.32448924G>C	ENSP00000309477:p.Glu801Gln					ACO1_uc003zqx.3_Missense_Mutation_p.E801Q|ACO1_uc003zqy.3_RNA	p.E801Q	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	20	2556	+			801					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2401G>C	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601652	0.87055	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.46819	0.86;0.86;1.88	5.83	5.83	0.93111	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85817	0.1383	10	0.87932	D	0	-19.9144	18.8909	0.92403	0.0:0.0:1.0:0.0	.	801	P21399	ACOC_HUMAN	Q	801;801;702	ENSP00000309477:E801Q;ENSP00000369255:E801Q;ENSP00000438733:E702Q	ENSP00000309477:E801Q	E	+	1	0	ACO1	32438924	1.000000	0.71417	0.975000	0.42487	0.586000	0.36452	9.761000	0.98940	2.759000	0.94783	0.650000	0.86243	GAG		0.488	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		4	61	0	0	0	0	4	61				
TAF1L	138474	broad.mit.edu	37	9	32634244	32634244	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32634244G>C	ENST00000242310.4	-	1	1423	c.1334C>G	c.(1333-1335)aCa>aGa	p.T445R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	445					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGGTTTTGTCCCTTTGTG	0.483																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1333-1335)ACA>AGA		TBP-associated factor RNA polymerase 1-like							215.0	198.0	204.0					9																	32634244		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634244G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1334C>G	9.37:g.32634244G>C	ENSP00000418379:p.Thr445Arg					uc003zrh.1_RNA	p.T445R	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1424	-			445					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1334C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342578	0.41498	.	.	ENSG00000122728	ENST00000242310	T	0.08458	3.09	0.644	-0.425	0.12317	.	0.000000	0.85682	D	0.000000	T	0.07234	0.0183	L	0.57536	1.79	0.44816	D	0.997827	B	0.28998	0.23	B	0.24269	0.052	T	0.21965	-1.0230	10	0.46703	T	0.11	.	4.7787	0.13192	0.2797:0.0:0.7203:0.0	.	445	Q8IZX4	TAF1L_HUMAN	R	445	ENSP00000418379:T445R	ENSP00000418379:T445R	T	-	2	0	TAF1L	32624244	1.000000	0.71417	0.986000	0.45419	0.821000	0.46438	6.138000	0.71717	-0.198000	0.10333	0.430000	0.28490	ACA		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			11	180	0	0	0	0	11	180				
HIATL1	84641	broad.mit.edu	37	9	97218593	97218593	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:97218593C>G	ENST00000375344.3	+	10	1369	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	367				S -> T (in Ref. 4; BAB55274). {ECO:0000305}.	transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GCCCTCGTCTCTCGGAATGCA	0.577																																					Pancreas(77;1260 1915 1973 10423)	uc004aur.2		NA																	0				ovary(2)	2						c.(1099-1101)TCT>TGT		hippocampus abundant transcript-like 1							122.0	95.0	104.0					9																	97218593		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97218593C>G	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1100C>G	9.37:g.97218593C>G	ENSP00000364493:p.Ser367Cys					HIATL1_uc011luh.1_Intron	p.S367C	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN			10	1369	+		Acute lymphoblastic leukemia(62;0.136)	367	S -> T (in Ref. 3; BAB55274).		Extracellular (Potential).		B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.1100C>G	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982893	0.93044	.	.	ENSG00000148110	ENST00000375344;ENST00000277183	T	0.60672	0.17	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000020	T	0.78748	0.4332	M	0.88640	2.97	0.80722	D	1	D	0.54207	0.965	D	0.64042	0.921	T	0.81656	-0.0834	10	0.62326	D	0.03	-8.7467	16.6356	0.85058	0.0:1.0:0.0:0.0	.	367	Q5SR56	HIAL1_HUMAN	C	367;72	ENSP00000364493:S367C	ENSP00000277183:S72C	S	+	2	0	HIATL1	96258414	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.257000	0.78362	2.880000	0.98712	0.655000	0.94253	TCT		0.577	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		4	80	0	0	0	0	4	80				
ZFP37	7539	broad.mit.edu	37	9	115818942	115818942	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:115818942A>C	ENST00000374227.3	-	1	54	c.27T>G	c.(25-27)atT>atG	p.I9M	ZFP37_ENST00000555206.1_Missense_Mutation_p.I9M|ZFP37_ENST00000553380.1_Missense_Mutation_p.I9M	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCTTTGTCAGAATCTGGACGC	0.682																																						uc004bgm.1		NA																	0				ovary(1)|skin(1)	2						c.(25-27)ATT>ATG		zinc finger protein 37 homolog							80.0	79.0	79.0					9																	115818942		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818942A>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.27T>G	9.37:g.115818942A>C	ENSP00000363344:p.Ile9Met					ZFP37_uc011lwz.1_Missense_Mutation_p.I9M|ZFP37_uc011lxa.1_Missense_Mutation_p.I9M	p.I9M	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			1	55	-			9					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.27T>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	a	14.58	2.577673	0.45902	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.06528	3.34;3.29;3.4	3.19	-0.28	0.12886	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.003	B;B;B	0.14023	0.01;0.01;0.004	T	0.43893	-0.9363	9	0.40728	T	0.16	.	3.213	0.06689	0.3117:0.319:0.3693:0.0	.	9;9;9	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	M	9	ENSP00000363344:I9M;ENSP00000451310:I9M;ENSP00000452552:I9M	ENSP00000363344:I9M	I	-	3	3	ZFP37	114858763	0.004000	0.15560	0.081000	0.20488	0.053000	0.15095	-0.002000	0.12924	-0.078000	0.12730	0.456000	0.33151	ATT		0.682	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		9	63	0	0	0	0	9	63				
BRD3	8019	broad.mit.edu	37	9	136917540	136917540	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:136917540G>A	ENST00000303407.7	-	3	424	c.239C>T	c.(238-240)cCa>cTa	p.P80L	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.P80L|BRD3_ENST00000357885.2_Missense_Mutation_p.P80L	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	80	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CATATCCATTGGGTTTTTAAT	0.333			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.2		NA		Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	NUT|C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				stomach(4)|midline_organs(3)|kidney(1)	8						c.(238-240)CCA>CTA		bromodomain containing protein 3							75.0	82.0	80.0					9																	136917540		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136917540G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.239C>T	9.37:g.136917540G>A	ENSP00000305918:p.Pro80Leu					BRD3_uc004cex.2_Missense_Mutation_p.P80L	p.P80L	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	3	427	-			80			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.239C>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953166	0.92660	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.71341	-0.56;-0.56;-0.56	4.97	4.97	0.65823	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91758	0.7393	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95572	0.8639	10	0.87932	D	0	-18.8951	17.5699	0.87932	0.0:0.0:1.0:0.0	.	80;80	Q15059-2;Q15059	.;BRD3_HUMAN	L	80	ENSP00000305918:P80L;ENSP00000360900:P80L;ENSP00000350557:P80L	ENSP00000305918:P80L	P	-	2	0	BRD3	135907361	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	9.524000	0.98036	2.451000	0.82905	0.561000	0.74099	CCA		0.333	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		5	66	0	0	0	0	5	66				
CELSR2	1952	broad.mit.edu	37	1	109794913	109794915	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109794913_109794915delGAT	ENST00000271332.3	+	1	2273_2275	c.2212_2214delGAT	c.(2212-2214)gatdel	p.D738del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	738	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGCCACGGATGAGGACACAG	0.596																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(2212-2214)GATdel		cadherin EGF LAG seven-pass G-type receptor 2																																				SO:0001651	inframe_deletion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794913_109794915delGAT	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2212_2214delGAT	1.37:g.109794913_109794915delGAT	ENSP00000271332:p.Asp738del						p.D738del	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2273_2275	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	738			Cadherin 6.|Extracellular (Potential).		Q5T2Y7|Q92566	In_Frame_Del	DEL	ENST00000271332.3	37	c.2212_2214delGAT	CCDS796.1																																																																																				0.596	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		9	54	NA	NA	NA	NA	9	54	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576868	7576886	+	Frame_Shift_Del	DEL	TTCTCCATCCAGTGGTTTC	TTCTCCATCCAGTGGTTTC	-	rs121912659		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC	ENST00000269305.4	-	9	1149_1167	c.960_978delGAAACCACTGGATGGAGAA	c.(958-978)aagaaaccactggatggagaafs	p.KKPLDGE320fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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	320	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E326*(4)|p.K321fs*24(4)|p.P322fs*23(3)|p.K320N(3)|p.K321_P322insK(2)|p.P318fs*15(2)|p.D324E(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.G325*(1)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.Y327fs*10(1)|p.D324fs*29(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.D324fs*21(1)|p.G325fs*23(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.G325A(1)|p.D324D(1)|p.G325E(1)|p.E326K(1)|p.D324S(1)|p.G325V(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)	GGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCT	0.452		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		57	Substitution - Missense(19)|Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - Nonsense(7)|Insertion - Frameshift(3)|Substitution - coding silent(3)|Insertion - In frame(2)|Unknown(1)|Complex - frameshift(1)	p.0?(7)|p.E326*(4)|p.K321fs*24(4)|p.K320N(3)|p.D324E(2)|p.K320fs*26(2)|p.K320*(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.K320fs*25(1)|p.P322fs*23(1)|p.Y327fs*10(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.D324fs*21(1)|p.G325fs*23(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.G325A(1)|p.D324D(1)|p.G325E(1)|p.D324S(1)|p.G325V(1)|p.K320fs*18(1)	upper_aerodigestive_tract(8)|ovary(7)|urinary_tract(6)|breast(6)|large_intestine(5)|central_nervous_system(4)|skin(4)|bone(4)|liver(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|peritoneum(1)|endometrium(1)|oesophagus(1)|lung(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920680	TP53	M	rs121912659	c.(958-978)AAGAAACCACTGGATGGAGAAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC	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.960_978delGAAACCACTGGATGGAGAA	17.37:g.7576868_7576886delTTCTCCATCCAGTGGTTTC	ENSP00000269305:p.Lys320fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.K320fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.K188fs|TP53_uc010cng.1_Frame_Shift_Del_p.K188fs|TP53_uc002gii.1_Frame_Shift_Del_p.K188fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K320fs|TP53_uc010cni.1_Frame_Shift_Del_p.K320fs|TP53_uc002gij.2_Frame_Shift_Del_p.K320fs	p.K320fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1154_1172	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	320_326		E -> G (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.960_978delGAAACCACTGGATGGAGAA	CCDS11118.1																																																																																				0.452	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	86	NA	NA	NA	NA	8	86	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179585124	179585128	+	Frame_Shift_Del	DEL	CAGAG	CAGAG	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:179585124_179585128delCAGAG	ENST00000591111.1	-	78	22634_22638	c.22410_22414delCTCTG	c.(22408-22416)tgctctgtcfs	p.SV7471fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.SV6544fs|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.SV7788fs			Q8WZ42	TITIN_HUMAN	titin	13026	Ig-like 56.				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)			TTGAACTTGACAGAGCAAGAACACG	0.405																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(19627-19635)TGCTCTGTCfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585124_179585128delCAGAG	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.22410_22414delCTCTG	2.37:g.179585124_179585128delCAGAG	ENSP00000465570:p.Ser7471fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.C3204fs	p.C6543fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	19853_19857	-			7470_7472					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.19629_19633delCTCTG																																																																																					0.405	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	164	NA	NA	NA	NA	14	164	---	---	---	---
GPM6B	2824	broad.mit.edu	37	X	13801551	13801553	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chrX:13801551_13801553delGTG	ENST00000356942.5	-	3	777_779	c.336_338delCAC	c.(334-339)accaca>aca	p.112_113TT>T	GPM6B_ENST00000398361.3_In_Frame_Del_p.26_27TT>T|GPM6B_ENST00000316715.4_In_Frame_Del_p.152_153TT>T|GPM6B_ENST00000493677.1_In_Frame_Del_p.126_127TT>T|GPM6B_ENST00000454189.2_In_Frame_Del_p.93_94TT>T|GPM6B_ENST00000355135.2_In_Frame_Del_p.152_153TT>T	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	112					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACTGCACTTGTGGTGTAAAAGC	0.424																																						uc004cvz.2		NA																	0					0						c.(334-339)ACCACA>ACA		glycoprotein M6B isoform 3																																				SO:0001651	inframe_deletion	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13801551_13801553delGTG		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.336_338delCAC	X.37:g.13801554_13801556delGTG	ENSP00000349420:p.Thr113del					GPM6B_uc004cvx.2_In_Frame_Del_p.93_94TT>T|GPM6B_uc011min.1_In_Frame_Del_p.26_27TT>T|GPM6B_uc004cwa.2_In_Frame_Del_p.93_94TT>T|GPM6B_uc004cvw.2_In_Frame_Del_p.152_153TT>T|GPM6B_uc011mim.1_In_Frame_Del_p.126_127TT>T|GPM6B_uc004cvy.2_In_Frame_Del_p.152_153TT>T	p.112_113TT>T	NM_005278	NP_005269	Q13491	GPM6B_HUMAN			3	627_629	-			112_113					O76077|Q86X43|Q8N956	In_Frame_Del	DEL	ENST00000356942.5	37	c.336_338delCAC	CCDS14158.1																																																																																				0.424	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		22	78	NA	NA	NA	NA	22	78	---	---	---	---
